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Melanoma: HELP
Articles by Susana Puig
Based on 156 articles published since 2008
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Between 2008 and 2019, S. Puig wrote the following 156 articles about Melanoma.
 
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5 · 6 · 7
1 Guideline [Initial evaluation, diagnosis, staging, treatment, and follow-up of patients with primary cutaneous malignant melanoma. Consensus statement of the Network of Catalan and Balearic Melanoma Centers]. 2010

Mangas, C / Paradelo, C / Puig, S / Gallardo, F / Marcoval, J / Azon, A / Bartralot, R / Bel, S / Bigatà, X / Curcó, N / Dalmau, J / del Pozo, L J / Ferrándiz, C / Formigón, M / González, A / Just, M / Llambrich, A / Llistosella, E / Malvehy, J / Martí, R M / Nogués, M E / Pedragosa, R / Rocamora, V / Sàbat, M / Salleras, M. ·Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain. cris_mangas@yahoo.es ·Actas Dermosifiliogr · Pubmed #20223155.

ABSTRACT: The consensus statement on the management of primary cutaneous melanoma that we present here was based on selection, discussion, review, and comparison of recent literature (including national and international guidelines). The protocols for the diagnosis, treatment, and follow-up used in the hospital centers throughout Catalonia and the Balearic Isles belonging to the Network of Catalan and Balearic Melanoma Centers were also considered. The main objective of this statement was to present the overall management of melanoma patients typically used in our region at the present time. As such, the statement was not designed to be an obligatory protocol for health professionals caring for this group of patients, and neither can it nor should it be used for this purpose. Professionals reading the statement should not therefore consider it binding on their practice, and in no case can this text be used to guarantee or seek responsibility for a given medical opinion. The group of dermatologists who have signed this statement was created 3 years ago with the aim of making our authorities aware of the importance of this complex tumor, which, in comparison with other types of cancer, we believe does not receive sufficient attention in Spain. In addition, the regular meetings of the group have produced interesting proposals for collaboration in various epidemiological, clinical, and basic applied research projects on the subject of malignant melanoma in our society.

2 Editorial A new era in melanoma. 2012

Puig, Susana. · ·Dermatol Ther · Pubmed #23046016.

ABSTRACT: -- No abstract --

3 Review Cutaneous toxicities of new treatments for melanoma. 2018

Boada, A / Carrera, C / Segura, S / Collgros, H / Pasquali, P / Bodet, D / Puig, S / Malvehy, J. ·Dermatology Department, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Crta/Canyet s/n., Badalona, 08016, Barcelona, Spain. aramboada@gmail.com. · Melanoma Unit, Dermatology Department, Hospital Clinic, Institut d'investigacions biomèdiques August Pi i Sunyer (IDIBAPS), CIBERER, Universitat de Barcelona, Barcelona, Spain. · Dermatology Department, Hospital del Mar, Parc de Salut Mar, Fundació Institut Mar d'Investigacions Mèdiques, Barcelona, Spain. · Sydney Melanoma Diagnostic Centre, Royal Prince Alfred Hospital, Sidney, Australia. · Dermatology Department, Pius Hospital Valls, Institut d'Investigació Sanitària Pere Virgili Valls, Tarragona, Spain. · Dermatology Department, Hospital Universitari Vall d'Hebron, VHIR, Barcelona, Spain. ·Clin Transl Oncol · Pubmed #29799097.

ABSTRACT: New drugs against advanced melanoma have emerged during last decade. Target therapy and immunotherapy have changed the management of patients with metastatic disease. Along with its generalized use, drug toxicities have appeared and the skin is the target organ of a significant part of them. This revision summarizes the most common side effects and consensus management to improve the compliance of therapies and patients' quality of life. Among the BRAF inhibitors, main cutaneous side effects are photosensitivity, plantar hyperkeratosis, and the appearance of verrucal keratosis or squamous cell carcinoma. Special attention must be paid to the development of new primary melanomas or changes on nevi during BRAF inhibitor therapy. The most common cutaneous side effects of immunotherapy are rash, pruritus, and vitiligo. It remains controversial the possible role of these toxicities as markers of response to therapy.

4 Review Noninvasive imaging for nonmelanoma skin cancer. 2016

Giavedoni, Priscila / Puig, Susana / Carrera, Cristina. ·Department of Dermatology, Melanoma Unit, Hospital Clinic d'Investigacions Biomediques August Pi Sunyer (IDIBAPS), University of Barcelona, Spain. · Centro de Investigacion Biomedica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. · Centro de Investigacion Biomedica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. ccarrera@clinic.ub.ess. ·Semin Cutan Med Surg · Pubmed #26963115.

ABSTRACT: The development of noninvasive optical technologies is revolutionizing the diagnosis of skin tumors. Nonmelanoma skin cancer, the most frequent neoplasm, has become an important health and economic issue, and proper management can avoid unnecessary morbidity and mutilating treatment or relapses. Noninvasive treatment modalities and the recently approved systemic therapies for advanced basal cell carcinoma cases make noninvasive monitoring techniques necessary. Current knowledge, applications, and limitations of the tools most clinically implemented, such as dermoscopy, reflectance confocal microscopy, high frequency ultrasonography, and optical coherence tomography will be reviewed in this article. In addition to the improvement of diagnostic accuracy of skin cancer, using these tools individually or in combination facilitates better management of certain patients and tumors.

5 Review Methods of Melanoma Detection. 2016

Leachman, Sancy A / Cassidy, Pamela B / Chen, Suephy C / Curiel, Clara / Geller, Alan / Gareau, Daniel / Pellacani, Giovanni / Grichnik, James M / Malvehy, Josep / North, Jeffrey / Jacques, Steven L / Petrie, Tracy / Puig, Susana / Swetter, Susan M / Tofte, Susan / Weinstock, Martin A. ·Department of Dermatology and Knight Cancer Institute, Oregon Health and Science University, 3303 SW Bond Avenue, CH16D, Portland, OR, 97239, USA. leachmas@ohsu.edu. · Department of Dermatology and Knight Cancer Institute, Oregon Health and Science University, 3125 SW Sam Jackson Park Road, L468R, Portland, OR, 97239, USA. cassidyp@ohsu.edu. · Department of Dermatology, Emory University School of Medicine, 1525 Clifton Road NE, 1st Floor, Atlanta, GA, 30322, USA. schen2@emory.edu. · Department of Dermatology and Arizona Cancer Center, University of Arizona, 1515 N Campbell Avenue, Tucson, AZ, 85721, USA. ccuriel@email.arizona.edu. · Department of Dermatology, Harvard School of Public Health and Massachusetts General Hospital, Landmark Center, 401 Park Drive, 3rd Floor East, Boston, MA, 02215, USA. ageller@hsph.harvard.edu. · Laboratory of Investigative Dermatology, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA. daniel.gareau@rockefeller.edu. · Department of Dermatology, University of Modena and Reggio Emilia, Via del Pozzo 71, Modena, Italy. giovanni.pellacani@unimore.it. · Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine, Room 912, BRB (R-125), 1501 NW 10th Avenue, Miami, FL, 33136, USA. grichnik@miami.edu. · Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, Villarroel 170, 08036, Barcelona, Spain. jmalvehy@clinic.ub.es. · University of California, San Francisco, 1701 Divisadero Street, Suite 280, San Francisco, CA, 94115, USA. jeffrey.north@ucsf.edu. · Department of Biomedical Engineering and Dermatology, Oregon Health and Science University, 3303 SW Bond Avenue, CH13B, Portland, OR, 97239, USA. jacquess@ohsu.edu. · Department of Biomedical Engineering, Oregon Health and Science University, 3303 SW Bond Avenue, CH13B, Portland, OR, 97239, USA. petrie@ohsu.edu. · Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, Villarroel 170, 08036, Barcelona, Spain. spuig@clinic.ub.es. · Department of Dermatology/Cutaneous Oncology, Stanford University, 900 Blake Wilbur Drive, W3045, Stanford, CA, 94305, USA. sswetter@stanford.edu. · Department of Dermatology, Oregon Health and Science University, 3303 SW Bond Avenue, CH16D, Portland, OR, 97239, USA. toftes@ohsu.edu. · Departments of Dermatology and Epidemiology, Brown University, V A Medical Center 111D, 830 Chalkstone Avenue, Providence, RI, 02908, USA. maw@brown.edu. ·Cancer Treat Res · Pubmed #26601859.

ABSTRACT: Detection and removal of melanoma, before it has metastasized, dramatically improves prognosis and survival. The purpose of this chapter is to (1) summarize current methods of melanoma detection and (2) review state-of-the-art detection methods and technologies that have the potential to reduce melanoma mortality. Current strategies for the detection of melanoma range from population-based educational campaigns and screening to the use of algorithm-driven imaging technologies and performance of assays that identify markers of transformation. This chapter will begin by describing state-of-the-art methods for educating and increasing awareness of at-risk individuals and for performing comprehensive screening examinations. Standard and advanced photographic methods designed to improve reliability and reproducibility of the clinical examination will also be reviewed. Devices that magnify and/or enhance malignant features of individual melanocytic lesions (and algorithms that are available to interpret the results obtained from these devices) will be compared and contrasted. In vivo confocal microscopy and other cellular-level in vivo technologies will be compared to traditional tissue biopsy, and the role of a noninvasive "optical biopsy" in the clinical setting will be discussed. Finally, cellular and molecular methods that have been applied to the diagnosis of melanoma, such as comparative genomic hybridization (CGH), fluorescent in situ hybridization (FISH), and quantitative reverse transcriptase polymerase chain reaction (qRT-PCR), will be discussed.

6 Review A clinico-dermoscopic approach for skin cancer screening: recommendations involving a survey of the International Dermoscopy Society. 2013

Argenziano, Giuseppe / Giacomel, Jason / Zalaudek, Iris / Blum, Andreas / Braun, Ralph P / Cabo, Horacio / Halpern, Allan / Hofmann-Wellenhof, Rainer / Malvehy, Josep / Marghoob, Ashfaq A / Menzies, Scott / Moscarella, Elvira / Pellacani, Giovanni / Puig, Susana / Rabinovitz, Harold / Saida, Toshiaki / Seidenari, Stefania / Soyer, H Peter / Stolz, Wilhelm / Thomas, Luc / Kittler, Harald. ·Dermatology and Skin Cancer Unit, Arcispedale Santa Maria Nuova IRCCS, Viale Risorgimento 80, Reggio Emilia 42100, Italy. Electronic address: g.argenziano@gmail.com. ·Dermatol Clin · Pubmed #24075542.

ABSTRACT: Dermoscopy is useful for skin cancer screening, but a detailed approach is required that integrates this tool into a rational clinical work flow. To investigate clinician perceptions and behavior in approaching patients with skin tumors, a survey was launched by electronic mail through the International Dermoscopy Society. After 4 months, the responses were analyzed and significant findings calculated. Considering the current approach of study participants in examining patients for skin cancer, an up-to-date system of triage is presented in this review, which aims to promote an improved diagnostic accuracy and more timely management of skin malignancy.

7 Review Dermoscopic criteria and melanocytic lesions. 2012

Roldán-Marín, R / Puig, S / Malvehy, J. ·Diagnosis Dermatologica, Barcelona, Spain. ·G Ital Dermatol Venereol · Pubmed #22481578.

ABSTRACT: Dermoscopy is a noninvasive, in vivo method for the early diagnosis of malignant melanoma and the differential diagnosis of pigmented lesions of the skin. By allowing visualization of sub-macroscopic pigmented structures that correlate with specific underlying histopathologic structures, dermoscopy provides a more powerful tool than the naked-eye examination for clinicians to determine the need to excise a lesion. This article reviews the principles of dermoscopy, the most common dermoscopic patterns associated with nevi and melanoma, and the factors influencing the nevus pattern in a given individual.

8 Review Dermoscopic criteria and basal cell carcinoma. 2012

Puig, S / Cecilia, N / Malvehy, J. ·Melanoma Unit, Dermatology Department, Barcelona Clinical Hospital, IDIBAPS, Barcelona, Spain. susipuig@gmail.com ·G Ital Dermatol Venereol · Pubmed #22481576.

ABSTRACT: Basal cell carcinoma (BCC) is the most frequent of all skin cancers in the white population. Dermoscopy is a method that improves diagnosis in pigmented and non-pigmented skin lesions, allowing early diagnosis, especially of incipient lesions. The classical dermoscopy algorithm for the diagnosis of BCC includes lack of pigment network and the presence of at least one of the following criteria: ulceration, maple-leaf like structure, blue-gray globules, blue-ovoid nests, arborizing vessels and spoke-wheel structures. The non-classical dermoscopic features of BCC include some criteria more frequently seen in superficial BCC such as pink-white areas, concentric structures, multiple erosions, multiple in-focus blue-gray dots and fine vessels. Recently, the dermoscopy of Fibroepithelioma of Pinkus has also been described with the presence of fine arborizing vessels, white streaks and gray-brown structureless areas. Some dermoscopic structures also present in BCC are just visible with polarized dermoscopy such as white shiny streaks or Chrysalides and Rosetas. Improved knowledge of all these criteria may avoid some diagnostic pitfalls and improve the early recognition of BCCs.

9 Review [Melanocytic nevi, melanoma, and pregnancy]. 2011

Borges, V / Puig, S / Malvehy, J. ·Unidad de Melanoma, Servicio de Dermatología, Hospital Clínic, Barcelona, Spain. valborges@hotmail.com ·Actas Dermosifiliogr · Pubmed #21530926.

ABSTRACT: Malignant melanoma is among the malignant tumors whose incidence has risen markedly in recent decades. For many years the medical community debated the potential adverse effects of female hormones (whether of exogenous or pregnancy-related endogenous origin), on melanocytic nevi and malignant melanoma. Given that women have been delaying pregnancy until their thirties or forties and that the incidence of malignant melanoma increases in those decades, the likelihood of this tumor developing during pregnancy has increased. Recent clinical and experimental evidence has suggested that pregnancy does not affect prognosis in malignant melanoma and that it does not seem to lead to significant changes in nevi. This review examines the relationship between malignant melanoma and hormonal and reproductive factors. Evidence was located by MEDLINE search (in PubMed and Ovid) for articles in English and Spanish for the period from 1966 to March 2010; additional sources were found through the reference lists of the identified articles.

10 Review Selection criteria for genetic assessment of patients with familial melanoma. 2009

Leachman, Sancy A / Carucci, John / Kohlmann, Wendy / Banks, Kimberly C / Asgari, Maryam M / Bergman, Wilma / Bianchi-Scarrà, Giovanna / Brentnall, Teresa / Bressac-de Paillerets, Brigitte / Bruno, William / Curiel-Lewandrowski, Clara / de Snoo, Femke A / Debniak, Tadeusz / Demierre, Marie-France / Elder, David / Goldstein, Alisa M / Grant-Kels, Jane / Halpern, Allan C / Ingvar, Christian / Kefford, Richard F / Lang, Julie / MacKie, Rona M / Mann, Graham J / Mueller, Kurt / Newton-Bishop, Julia / Olsson, Håkan / Petersen, Gloria M / Puig, Susana / Rigel, Darrell / Swetter, Susan M / Tucker, Margaret A / Yakobson, Emanuel / Zitelli, John A / Tsao, Hensin. ·Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112-5550, USA. sancy.leachman@hci.utah.edu ·J Am Acad Dermatol · Pubmed #19751883.

ABSTRACT: Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, we have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing.

11 Clinical Trial MAGE-A3 immunotherapeutic as adjuvant therapy for patients with resected, MAGE-A3-positive, stage III melanoma (DERMA): a double-blind, randomised, placebo-controlled, phase 3 trial. 2018

Dreno, Brigitte / Thompson, John F / Smithers, Bernard Mark / Santinami, Mario / Jouary, Thomas / Gutzmer, Ralf / Levchenko, Evgeny / Rutkowski, Piotr / Grob, Jean-Jacques / Korovin, Sergii / Drucis, Kamil / Grange, Florent / Machet, Laurent / Hersey, Peter / Krajsova, Ivana / Testori, Alessandro / Conry, Robert / Guillot, Bernard / Kruit, Wim H J / Demidov, Lev / Thompson, John A / Bondarenko, Igor / Jaroszek, Jaroslaw / Puig, Susana / Cinat, Gabriela / Hauschild, Axel / Goeman, Jelle J / van Houwelingen, Hans C / Ulloa-Montoya, Fernando / Callegaro, Andrea / Dizier, Benjamin / Spiessens, Bart / Debois, Muriel / Brichard, Vincent G / Louahed, Jamila / Therasse, Patrick / Debruyne, Channa / Kirkwood, John M. ·Department of Dermatooncology, Hotel Dieu Nantes University Hospital, Nantes, France. · Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia. · Queensland Melanoma Project, Discipline of Surgery, The University of Queensland, Princess Alexandra Hospital, Woolloongabba, QLD, Australia. · Melanoma Sarcoma Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy. · Service d'Oncologie Médicale, Hôpital François Mitterrand, Pau, France. · Skin Cancer Center Hannover, Department of Dermatology, Hannover Medical School, Hannover, Germany. · Petrov Research Institute of Oncology, St Petersburg, Russia. · Department of Soft Tissue, Bone Sarcoma, and Melanoma, Maria Sklodowska-Curie Institute, Oncology Center, Warsaw, Poland. · Department of Dermatology and Skin Cancers, La Timone APHM Hospital, Aix-Marseille University, Marseille, France. · Department of Skin and Soft Tissue Tumours, National Cancer Institute, Kiev, Ukraine. · Swissmed Centrum Zdrowia, Gdansk, Poland; Department of Surgical Oncology, Gdansk Medical University, Gdansk, Poland. · Dermatology Department, Hôpital Robert Debré, Université de Reims Champagne-Ardenne, Reims, France. · Department of Dermatology, Centre Hospitalier Universitaire, Tours, France; UFR de Médecine, Université François-Rabelais, Tours, France. · Melanoma Immunology and Oncology Group, Centenary Institute, University of Sydney, Sydney, NSW, Australia; Melanoma Institute Australia, Sydney, NSW, Australia. · Dermato-oncology Department, General University Hospital, Prague, Czech Republic. · Columbus Clinic Center, Milan, Italy. · Division of Hematology & Oncology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. · Département de Dermatologie, Centre Hospitalier Universitaire, Hôpital Saint-Éloi, Montpellier, France. · Department of Medical Oncology, Erasmus MC Cancer institute, Rotterdam, Netherlands. · Cancer Research Center, Moscow, Russia. · Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia; Seattle Cancer Care Alliance, University of Washington, Seattle, WA, USA. · Department of Oncology and Medical Radiology, Dnipropetrovsk State Medical Academy, Dnipropetrovsk, Ukraine. · Centrum Medyczne Bieńkowski, Klinika Chirurgii Plastycznej, Bydgoszcz, Poland; Department of Oncological Surgery, Oncology Center, Bydgoszcz, Poland. · Melanoma Unit, Dermatology Department, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain. · Instituto de Oncología Ángel H Roffo, Universidad de Buenos Aires, Buenos Aires, Argentina. · Department of Dermatology, Venereology, and Allergology, University Hospital Schleswig-Holstein, Kiel, Germany. · Medical Statistics, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Netherlands. · GlaxoSmithKline, Rixensart, Belgium. Electronic address: fernando.x.ulloa-montoya@GSK.com. · GlaxoSmithKline, Rixensart, Belgium. · GlaxoSmithKline, Rixensart, Belgium; Immunology Translational Medicine, UCB, Brussels, Belgium. · GlaxoSmithKline, Rixensart, Belgium; Biostatistics Department, Janssen Research & Development, Beerse, Belgium. · GlaxoSmithKline, Rixensart, Belgium; ViaNova Biosciences, Brussels, Belgium. · GlaxoSmithKline, Rixensart, Belgium; Laboratoires Servier, Paris, France. · GlaxoSmithKline, Rixensart, Belgium; University Hospitals Leuven, Leuven, Belgium. · UPMC Hillman Cancer Center, Pittsburgh, PA, USA. ·Lancet Oncol · Pubmed #29908991.

ABSTRACT: BACKGROUND: Despite newly approved treatments, metastatic melanoma remains a life-threatening condition. We aimed to evaluate the efficacy of the MAGE-A3 immunotherapeutic in patients with stage IIIB or IIIC melanoma in the adjuvant setting. METHODS: DERMA was a phase 3, double-blind, randomised, placebo-controlled trial done in 31 countries and 263 centres. Eligible patients were 18 years or older and had histologically proven, completely resected, stage IIIB or IIIC, MAGE-A3-positive cutaneous melanoma with macroscopic lymph node involvement and an Eastern Cooperative Oncology Group performance score of 0 or 1. Randomisation and treatment allocation at the investigator sites were done centrally via the internet. We randomly assigned patients (2:1) to receive up to 13 intramuscular injections of recombinant MAGE-A3 with AS15 immunostimulant (MAGE-A3 immunotherapeutic; 300 μg MAGE-A3 antigen plus 420 μg CpG 7909 reconstituted in AS01B to a total volume of 0·5 mL), or placebo, over a 27-month period: five doses at 3-weekly intervals, followed by eight doses at 12-weekly intervals. The co-primary outcomes were disease-free survival in the overall population and in patients with a potentially predictive gene signature (GS-positive) identified previously and validated here via an adaptive signature design. The final analyses included all patients who had received at least one dose of study treatment; analyses for efficacy were in the as-randomised population and for safety were in the as-treated population. This trial is registered with ClinicalTrials.gov, number NCT00796445. FINDINGS: Between Dec 1, 2008, and Sept 19, 2011, 3914 patients were screened, 1391 randomly assigned, and 1345 started treatment (n=895 for MAGE-A3 and n=450 for placebo). At final analysis (data cutoff May 23, 2013), median follow-up was 28·0 months [IQR 23·3-35·5] in the MAGE-A3 group and 28·1 months [23·7-36·9] in the placebo group. Median disease-free survival was 11·0 months (95% CI 10·0-11·9) in the MAGE-A3 group and 11·2 months (8·6-14·1) in the placebo group (hazard ratio [HR] 1·01, 0·88-1·17, p=0·86). In the GS-positive population, median disease-free survival was 9·9 months (95% CI 5·7-17·6) in the MAGE-A3 group and 11·6 months (5·6-22·3) in the placebo group (HR 1·11, 0·83-1·49, p=0·48). Within the first 31 days of treatment, adverse events of grade 3 or worse were reported by 126 (14%) of 894 patients in the MAGE-A3 group and 56 (12%) of 450 patients in the placebo group, treatment-related adverse events of grade 3 or worse by 36 (4%) patients given MAGE-A3 vs six (1%) patients given placebo, and at least one serious adverse event by 14% of patients in both groups (129 patients given MAGE-A3 and 64 patients given placebo). The most common adverse events of grade 3 or worse were neoplasms (33 [4%] patients in the MAGE-A3 group vs 17 [4%] patients in the placebo group), general disorders and administration site conditions (25 [3%] for MAGE-A3 vs four [<1%] for placebo) and infections and infestations (17 [2%] for MAGE-A3 vs seven [2%] for placebo). No deaths were related to treatment. INTERPRETATION: An antigen-specific immunotherapeutic alone was not efficacious in this clinical setting. Based on these findings, development of the MAGE-A3 immunotherapeutic for use in melanoma has been stopped. FUNDING: GlaxoSmithKline Biologicals SA.

12 Clinical Trial Adjuvant Pembrolizumab versus Placebo in Resected Stage III Melanoma. 2018

Eggermont, Alexander M M / Blank, Christian U / Mandala, Mario / Long, Georgina V / Atkinson, Victoria / Dalle, Stéphane / Haydon, Andrew / Lichinitser, Mikhail / Khattak, Adnan / Carlino, Matteo S / Sandhu, Shahneen / Larkin, James / Puig, Susana / Ascierto, Paolo A / Rutkowski, Piotr / Schadendorf, Dirk / Koornstra, Rutger / Hernandez-Aya, Leonel / Maio, Michele / van den Eertwegh, Alfonsus J M / Grob, Jean-Jacques / Gutzmer, Ralf / Jamal, Rahima / Lorigan, Paul / Ibrahim, Nageatte / Marreaud, Sandrine / van Akkooi, Alexander C J / Suciu, Stefan / Robert, Caroline. ·From the Gustave Roussy Cancer Campus Grand Paris and University Paris-Saclay, Villejuif (A.M.M.E., C.R.), Hospices Civils de Lyon Cancer Institute, Cancer Research Center of Lyon, Lyon University, Lyon (S.D.), and Aix-Marseille University, Hôpital de la Timone, Assistance Publique-Hôpitaux de Marseille, Marseille (J.-J.G.) - all in France · Netherlands Cancer Institute-Antoni van Leeuwenhoek (C.U.B., A.C.J.A.) and VU University Medical Center (A.J.M.E.), Amsterdam, and Radboud University Medical Center Nijmegen, Nijmegen (R.K.) - all in the Netherlands · Azienda Ospedaliera Papa Giovanni XXIII, Bergamo (M. Mandala), Istituto Nazionale Tumori Istituto di Ricovero e Cura a Carattere Scientifico Fondazione G. Pascale, Naples (P.A.A.), and Universita Degli Studi Di Siena-Policlinico le Scotte, Siena (M. Maio) - all in Italy · Melanoma Institute Australia, the University of Sydney, and Mater and Royal North Shore Hospitals (G.V.L.) and Westmead and Blacktown Hospitals, Melanoma Institute Australia and the University of Sydney (M.S.C.), Sydney, Princess Alexandra Hospital, University of Queensland, Brisbane (V.A.), Alfred Hospital (A.H.) and Peter MacCallum Cancer Centre (S. Sandhu), Melbourne, VIC, and Fiona Stanley Hospital-University of Western Australia-Edith Cowan University Perth, Perth (A.K.) - all in Australia · Cancer Research Center, Moscow (M.L.) · Royal Marsden Hospital, London (J.L.) · Hospital Clinic Universitari de Barcelona, Barcelona (S.P.) · Maria Sklodowska-Curie Institute-Oncology Center, Warsaw, Poland (P.R.) · University Hospital Essen, Essen and German Cancer Consortium, Heidelberg (D.S.), and the Skin Cancer Center, Department of Dermatology, Hannover Medical School, Hannover (R.G.) - all in Germany · Washington University School of Medicine, St. Louis (L.H.-A.) · Centre Hospitalier de l'Université de Montréal (CHUM), Centre de Recherche du CHUM, Montreal (R.J.) · Christie NHS Foundation Trust, Manchester, United Kingdom (P.L.) · Merck, Kenilworth, NJ (N.I.) · and the European Organization for the Research and Treatment of Cancer Headquarters, Brussels (S.M., S. Suciu). ·N Engl J Med · Pubmed #29658430.

ABSTRACT: BACKGROUND: The programmed death 1 (PD-1) inhibitor pembrolizumab has been found to prolong progression-free and overall survival among patients with advanced melanoma. We conducted a phase 3 double-blind trial to evaluate pembrolizumab as adjuvant therapy in patients with resected, high-risk stage III melanoma. METHODS: Patients with completely resected stage III melanoma were randomly assigned (with stratification according to cancer stage and geographic region) to receive 200 mg of pembrolizumab (514 patients) or placebo (505 patients) intravenously every 3 weeks for a total of 18 doses (approximately 1 year) or until disease recurrence or unacceptable toxic effects occurred. Recurrence-free survival in the overall intention-to-treat population and in the subgroup of patients with cancer that was positive for the PD-1 ligand (PD-L1) were the primary end points. Safety was also evaluated. RESULTS: At a median follow-up of 15 months, pembrolizumab was associated with significantly longer recurrence-free survival than placebo in the overall intention-to-treat population (1-year rate of recurrence-free survival, 75.4% [95% confidence interval {CI}, 71.3 to 78.9] vs. 61.0% [95% CI, 56.5 to 65.1]; hazard ratio for recurrence or death, 0.57; 98.4% CI, 0.43 to 0.74; P<0.001) and in the subgroup of 853 patients with PD-L1-positive tumors (1-year rate of recurrence-free survival, 77.1% [95% CI, 72.7 to 80.9] in the pembrolizumab group and 62.6% [95% CI, 57.7 to 67.0] in the placebo group; hazard ratio, 0.54; 95% CI, 0.42 to 0.69; P<0.001). Adverse events of grades 3 to 5 that were related to the trial regimen were reported in 14.7% of the patients in the pembrolizumab group and in 3.4% of patients in the placebo group. There was one treatment-related death due to myositis in the pembrolizumab group. CONCLUSIONS: As adjuvant therapy for high-risk stage III melanoma, 200 mg of pembrolizumab administered every 3 weeks for up to 1 year resulted in significantly longer recurrence-free survival than placebo, with no new toxic effects identified. (Funded by Merck; ClinicalTrials.gov number, NCT02362594 ; EudraCT number, 2014-004944-37 .).

13 Article Induced Vitiligo due to Talimogene Laherparepvec Injection for Metastatic Melanoma Associated with Long-term Complete Response. 2019

Iglesias, Pablo / Ribero, Simone / Barreiro, Alicia / Podlipnik, Sebastian / Carrera, Cristina / Malvehy, Josep / Puig, Susana. ·Melanoma unit, Dermatology Department, Hospital Clinic, Barcelona, Spain. ·Acta Derm Venereol · Pubmed #30281140.

ABSTRACT: -- No abstract --

14 Article MelaNostrum: a consensus questionnaire of standardized epidemiologic and clinical variables for melanoma risk assessment by the melanostrum consortium. 2018

Stratigos, Alexander J / Fargnoli, Maria Concetta / De Nicolo, Arcangela / Peris, Ketty / Puig, Susana / Soura, Efthymia / Menin, Chiara / Calista, Donato / Ghiorzo, Paola / Mandala, Mario / Massi, Daniela / Rodolfo, Monica / Del Regno, Laura / Stefanaki, Irene / Gogas, Helen / Bataille, Veronique / Tucker, Margaret A / Whiteman, David / Nagore, Eduardo / Landi, Maria Teresa. ·First Department of Dermatology, National and Kapodistrian University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece. · Department of Dermatology, University of L'Aquila, L'Aquila, Italy. · Cancer Genomics Program, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy. · Institute of Dermatology, Catholic University, Rome, Italy. · Dermatology Department, Melanoma Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, Barcelona, Spain. · Instituto de Investigacion Biomedica August Pi i Sunyer (IDIBAPS), Barcelona, Spain. · Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain. · Immunology and Diagnostic Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy. · Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy. · Department of Internal Medicine and Medical Specialties, University of Genoa and Genetics of Rare Cancers, University Hospital Policlinico San Martino-IRCCS, Genoa, Italy. · Unit of Melanoma, Department of Oncology and Hematology, Papa Giovanni XXIII Cancer Center Hospital, Bergamo, Italy. · Department of Surgery and Translational Medicine, University of Florence, Florence, Italy. · Immunotherapy Unit, Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. · Department of Internal Medicine, Laikon Hospital, National and Kapodistrian University of Athens School of Medicine, Athens, Greece. · Department of Twin Research and Genetic Epidemiology, Kings College, London, UK. · Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. · Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, Qld, Australia. · Department of Dermatology, Instituto Valenciano de Oncología, València, Spain. ·J Eur Acad Dermatol Venereol · Pubmed #30098061.

ABSTRACT: BACKGROUND: Many melanoma observational studies have been carried out across different countries and geographic areas using heterogeneous assessments of epidemiologic risk factors and clinical variables. AIM: To develop a consensus questionnaire to standardize epidemiologic and clinical data collection for melanoma risk assessment. METHODS: We used a stepwise strategy that included: compilation of variables from case-control datasets collected at various centres of the MelaNostrum Consortium; integration of variables from published case-control studies; consensus discussion of the collected items by MelaNostrum members; revision by independent experts; addition of online tools and image-based charts; questionnaire testing across centres and generation of a final draft. RESULTS: We developed a core consensus questionnaire (MelanoQ) that includes four separate sections: A. general and demographic data; B. phenotypic and ultraviolet radiation exposure risk factors and lifestyle habits; C. clinical examination, medical and family history; and D. diagnostic data on melanoma (cases only). Accompanying online tools, informative tables, and image-based charts aid standardization. Different subsections of the questionnaire are designed for self-administration, patient interviews performed by a physician or study nurse, and data collection from medical records. CONCLUSIONS: The MelanoQ questionnaire is a useful tool for the collection and standardization of epidemiologic and clinical data across different studies, centres, cultures and languages. This will expedite ongoing efforts to compile high-quality data for pooled analyses or meta-analyses and offer a solid base for the design of clinical, epidemiologic and translational studies on melanoma.

15 Article Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma. 2018

Gu, Fangyi / Chen, Ting-Huei / Pfeiffer, Ruth M / Fargnoli, Maria Concetta / Calista, Donato / Ghiorzo, Paola / Peris, Ketty / Puig, Susana / Menin, Chiara / De Nicolo, Arcangela / Rodolfo, Monica / Pellegrini, Cristina / Pastorino, Lorenza / Evangelou, Evangelos / Zhang, Tongwu / Hua, Xing / DellaValle, Curt T / Timothy Bishop, D / MacGregor, Stuart / Iles, Mark I / Law, Matthew H / Cust, Anne / Brown, Kevin M / Stratigos, Alexander J / Nagore, Eduardo / Chanock, Stephen / Shi, Jianxin / Consortium, Melanoma Meta-Analysis / Consortium, MelaNostrum / Landi, Maria Teresa. ·Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA. · Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. · Department of Mathematics and Statistics, Laval University, Quebec, Canada. · Department of Dermatology, University of L'Aquila, L'Aquila, Italy. · Department of Dermatology, Maurizio Bufalini Hospital, Cesena, Italy. · Department of Internal Medicine and Medical Specialties, University of Genoa and Genetics of Rare Cancers, Ospedale Policlinico San Martino, Genoa, Italy. · Institute of Dermatology, Catholic University, Rome, Italy. · Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain. · Department of Immunology and Molecular Oncology, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. · Cancer Genomics Program, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy. · Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. · Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece. · Department of Epidemiology and Biostatistics, Imperial College London, London, UK. · Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, UK. · Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. · Sydney School of Public Health, and Melanoma Institute Australia, The University of Sydney, Sydney, Australia. · 1st Department of Dermatology-Venereology, National and Kapodistrian University of Athens School of Medicine, Andreas Sygros Hospital, Athens, Greece. · Department of Dermatology, Instituto Valenciano de Oncología, València, Spain. ·Hum Mol Genet · Pubmed #30060076.

ABSTRACT: Melanoma heritability is among the highest for cancer and single nucleotide polymorphisms (SNPs) contribute to it. To date, only SNPs that reached statistical significance in genome-wide association studies or few candidate SNPs have been included in melanoma risk prediction models. We compared four approaches for building polygenic risk scores (PRS) using 12 874 melanoma cases and 23 203 controls from Melanoma Meta-Analysis Consortium as a training set, and newly genotyped 3102 cases and 2301 controls from the MelaNostrum consortium for validation. We estimated adjusted odds ratios (ORs) for melanoma risk using traditional melanoma risk factors and the PRS with the largest area under the receiver operator characteristics curve (AUC). We estimated absolute risks combining the PRS and other risk factors, with age- and sex-specific melanoma incidence and competing mortality rates from Italy as an example. The best PRS, including 204 SNPs (AUC = 64.4%; 95% confidence interval (CI) = 63-65.8%), developed using winner's curse estimate corrections, had a per-quintile OR = 1.35 (95% CI = 1.30-1.41), corresponding to a 3.33-fold increase comparing the 5th to the 1st PRS quintile. The AUC improvement by adding the PRS was up to 7%, depending on adjusted factors and country. The 20-year absolute risk estimates based on the PRS, nevus count and pigmentation characteristics for a 60-year-old Italian man ranged from 0.5 to 11.8% (relative risk  = 26.34), indicating good separation.

16 Article Visible and Extended Near-Infrared Multispectral Imaging for Skin Cancer Diagnosis. 2018

Rey-Barroso, Laura / Burgos-Fernández, Francisco J / Delpueyo, Xana / Ares, Miguel / Royo, Santiago / Malvehy, Josep / Puig, Susana / Vilaseca, Meritxell. ·Centre for Sensors, Instruments and Systems Development, Technical University of Catalonia, Terrassa 08222, Spain. laura.rey.barroso@upc.edu. · Centre for Sensors, Instruments and Systems Development, Technical University of Catalonia, Terrassa 08222, Spain. francisco.javier.burgos@upc.edu. · Centre for Sensors, Instruments and Systems Development, Technical University of Catalonia, Terrassa 08222, Spain. xana.delpueyo@upc.edu. · Centre for Sensors, Instruments and Systems Development, Technical University of Catalonia, Terrassa 08222, Spain. miguel.ares@oo.upc.edu. · Centre for Sensors, Instruments and Systems Development, Technical University of Catalonia, Terrassa 08222, Spain. santiago.royo@upc.edu. · Dermatology Department of the Hospital Clinic of Barcelona, IDIBAPS; Barcelona 08036, Spain. jmalvehy@gmail.com. · Dermatology Department of the Hospital Clinic of Barcelona, IDIBAPS; Barcelona 08036, Spain. susipuig@gmail.com. · Centre for Sensors, Instruments and Systems Development, Technical University of Catalonia, Terrassa 08222, Spain. meritxell.vilaseca@upc.edu. ·Sensors (Basel) · Pubmed #29734747.

ABSTRACT: With the goal of diagnosing skin cancer in an early and noninvasive way, an extended near infrared multispectral imaging system based on an InGaAs sensor with sensitivity from 995 nm to 1613 nm was built to evaluate deeper skin layers thanks to the higher penetration of photons at these wavelengths. The outcomes of this device were combined with those of a previously developed multispectral system that works in the visible and near infrared range (414 nm⁻995 nm). Both provide spectral and spatial information from skin lesions. A classification method to discriminate between melanomas and nevi was developed based on the analysis of first-order statistics descriptors, principal component analysis, and support vector machine tools. The system provided a sensitivity of 78.6% and a specificity of 84.6%, the latter one being improved with respect to that offered by silicon sensors.

17 Article Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q. 2018

Potrony, Miriam / Puig-Butille, Joan Anton / Farnham, James M / Giménez-Xavier, Pol / Badenas, Celia / Tell-Martí, Gemma / Aguilera, Paula / Carrera, Cristina / Malvehy, Josep / Teerlink, Craig C / Puig, Susana. ·Department of Dermatology, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain. · Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain. · Department of Biochemistry and Molecular Genetics, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain. · Department of Medicine, Division of Genetic Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA. · Department of Dermatology, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain. susipuig@gmail.com. · Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain. susipuig@gmail.com. ·Eur J Hum Genet · Pubmed #29706638.

ABSTRACT: The main genetic factors for familial melanoma remain unknown in >75% of families. CDKN2A is mutated in around 20% of melanoma-prone families. Other high-risk melanoma susceptibility genes explain <3% of families studied to date. We performed the first genome-wide linkage analysis in CDKN2A-negative Spanish melanoma-prone families to identify novel melanoma susceptibility loci. We included 68 individuals from 2, 3, and 6 families with 2, 3, and at least 4 melanoma cases. We detected a locus with significant linkage evidence at 11q14.1-q14.3, with a maximum het-TLOD of 3.449 (rs12285365:A>G), using evidence from multiple pedigrees. The genes contained by the subregion with the strongest linkage evidence were: DLG2, PRSS23, FZD4, and TMEM135. We also detected several regions with suggestive linkage evidence (TLOD >1.9) (1q, 6p, 7p, 11q, 12p, 13q) including the region previously detected in melanoma-prone families from Sweden at 3q29. The family-specific analysis revealed three loci with suggestive linkage evidence for family #1: 1q31.1-q32.1 (max. TLOD 2.447), 6p24.3-p22.3 (max. TLOD 2.409), and 11q13.3-q21 (max. TLOD 2.654). Future next-generation sequencing studies of these regions may allow the identification of new melanoma susceptibility genetic factors.

18 Article T-type calcium channels drive migration/invasion in BRAFV600E melanoma cells through Snail1. 2018

Maiques, Oscar / Barceló, Carla / Panosa, Anaïs / Pijuan, Jordi / Orgaz, Jose L / Rodriguez-Hernandez, Irene / Matas-Nadal, Clara / Tell, Gemma / Vilella, Ramón / Fabra, Angels / Puig, Susana / Sanz-Moreno, Victoria / Matias-Guiu, Xavier / Canti, Carles / Herreros, Judit / Marti, Rosa M / Macià, Anna. ·University of Lleida, IRBLleida, Lleida, Spain. · Tumour Plasticity Laboratory, Randall Division of Cell and Molecular Biophysics, New Hunt's House, King's College London, London, UK. · Department of Dermatology, Hospital Universitari Arnau de Vilanova, University of Lleida, IRBLleida, Lleida, Spain. · Melanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain. · Centre of Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. · Department of Immunology, Hospital Clínic, Barcelona, Spain. · Molecular Oncology, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain. · Department of Pathology and Molecular Genetics, Hospital Universitari Arnau de Vilanova, University of Lleida, IRBLleida, Lleida, Spain. · Centre of Biomedical Research on Cancer (CIBERONC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. ·Pigment Cell Melanoma Res · Pubmed #29385656.

ABSTRACT: Melanoma is a malignant tumor derived from melanocytes. Once disseminated, it is usually highly resistant to chemotherapy and is associated with poor prognosis. We have recently reported that T-type calcium channels (TTCCs) are overexpressed in melanoma cells and play an important role in melanoma progression. Importantly, TTCC pharmacological blockers reduce proliferation and deregulate autophagy leading to apoptosis. Here, we analyze the role of autophagy during migration/invasion of melanoma cells. TTCC Cav3.1 and LC3-II proteins are highly expressed in BRAFV600E compared with NRAS mutant melanomas, both in cell lines and biopsies. Chloroquine, pharmacological blockade, or gene silencing of TTCCs inhibit the autophagic flux and impair the migration and invasion capabilities, specifically in BRAFV600E melanoma cells. Snail1 plays an important role in motility and invasion of melanoma cells. We show that Snail1 is strongly expressed in BRAFV600E melanoma cells and patient biopsies, and its expression decreases when autophagy is blocked. These results demonstrate a role of Snail1 during BRAFV600E melanoma progression and strongly suggest that targeting macroautophagy and, particularly TTCCs, might be a good therapeutic strategy to inhibit metastasis of the most common melanoma type (BRAFV600E).

19 Article Prognostic role of tumoral PDL1 expression and peritumoral FoxP3+ lymphocytes in vulvar melanomas. 2018

Chłopik, Agata / Selim, M Angelica / Peng, Yan / Wu, Cheng-Lin / Tell-Marti, Gemma / Paral, Kristen M / Shalin, Sara C / Kraft, Stefan / Hsu, Chao-Kai / Shea, Christopher R / Puig, Susana / Fernandez-Figueras, Maria-Teresa / Biernat, Wojciech / Ryś, Janusz / Marszalek, Andrzej / Hoang, Mai P. ·Department of Pathology, Poznan University Medical Sciences and Greater Poland Cancer Center, Poznan, 60-206, Poland. · Department of Pathology, Duke University Medical Center, Durham, NC, 27710, USA. · Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. · Department of Pathology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, 70403, Taiwan. · Department of Dermatology, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, and Centre of Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, 08193, Spain. · Department of Pathology, University of Arkansas, Little Rock, AR, 72204, USA. · Department of Pathology, Center for Dermatopathology, Freiburg, 79016, Germany. · Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, 70403, Taiwan. · Department of Medicine, Section of Dermatology, University of Chicago, IL, 60637, USA. · Department of Pathology, Hospital Universitari Germans Trias i Pujol, Univeristat Autònoma de Barcelona, Barcelona, 08193, Spain. · Department of Pathology, Medical University of Gdansk, Gdansk, 80-309, Poland. · Department of Pathology, Center of Oncology, M. Sklodowska-Curie Memorial Institute, Krakow, 31-115, Poland. · Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA. Electronic address: mhoang@mgh.harvard.edu. ·Hum Pathol · Pubmed #29307625.

ABSTRACT: The prognostic role of PDL1 expression, CD8+ and FoxP3+ lymphocytes in vulvar melanomas has not been studied. We correlated PDL1 expression and CD8+ and FoxP3+ immune infiltrates with clinicopathologic variables and patient outcomes in a series of 75 vulvar melanomas. Tumoral PDL1 expression (>5%) was seen in 23% of cases. By Fisher exact test, PDL1 expression and peritumoral FoxP3+ lymphocytes significantly correlated with less disease-specific death. By linear regression analysis, correlations between tumoral PDL1 expression with the density of tumoral CD8+ and peritumoral CD8+ lymphocytes, tumoral FoxP3+ with tumoral CD8+ lymphocytes, and peritumoral FoxP3+ with peritumoral CD8+ lymphocytes were observed. By univariate analyses, tumor thickness >4 mm predicted poorer progression-free survival, melanoma-specific survival, and overall survival. PDL1 expression >5% and peritumoral CD8+, peritumoral FoxP3+, and tumoral FoxP3+ lymphocytes correlated with better overall survival. By multivariate analyses, high peritumoral FoxP3+ lymphocytes independently predicted better melanoma-specific survival (P = .023), and tumor thickness independently predicted poorer progression-free survival (P = .05) and overall survival (P = .039). In conclusion, our study shows that, independent from tumor thickness, an increased density of peritumoral FoxP3+ lymphocytes may positively impact survival in a subset of vulvar melanomas. Tumoral PDL1 expression correlated with tumoral as well as peritumoral CD8+ and FoxP3+ lymphocytes, supportive of an adaptive immune response. Although the frequency of PDL1 expression is low in vulvar melanoma, its expression may identify a subset of vulvar melanoma that might respond to immunotherapy.

20 Article Clinical and dermoscopic characterization of pediatric and adolescent melanomas: Multicenter study of 52 cases. 2018

Carrera, Cristina / Scope, Alon / Dusza, Stephen W / Argenziano, Giuseppe / Nazzaro, Gianluca / Phan, Alice / Tromme, Isabelle / Rubegni, Pietro / Malvehy, Josep / Puig, Susana / Marghoob, Ashfaq A. ·Melanoma Unit, Department of Dermatology, Hospital Clinic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Centro de Investigacion Biomedica en red de enfermedades raras (CIBERER), Barcelona, Spain; Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York. · Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York; Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. · Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York. · Dermatology Unit, University of Campania, Naples, Italy. · Dipartimento di Fisiopatologia e dei Trapianti, Università degli Studi di Milano-UOC Dermatologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. · Department of Dermatology, Centre Hospitalier Lyon Sud, Université Claude Bernard Lyon 1, Pierre Bénite Cedex, France. · Department of Dermatology, King Albert II Institute, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium. · Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze, Sezione di Dermatologia, Università di Siena, Siena, Italy. · Melanoma Unit, Department of Dermatology, Hospital Clinic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Centro de Investigacion Biomedica en red de enfermedades raras (CIBERER), Barcelona, Spain. · Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York. Electronic address: marghooa@mskcc.org. ·J Am Acad Dermatol · Pubmed #29024734.

ABSTRACT: BACKGROUND: Knowledge regarding the morphologic spectrum of pediatric melanoma (PM) is sparse, and this may in part contribute to delay in detection and thicker tumors. OBJECTIVE: To analyze the clinicodermoscopic characteristics of PM. METHODS: Retrospective study of 52 melanomas diagnosed in patients before the age of 20 years. RESULTS: On the basis of its clinical, dermoscopic, and histopathologic characteristics, PM can be classified as spitzoid or nonspitzoid. The nonspitzoid melanomas (n = 37 [72.3%]) presented in patients with a mean age of 16.3 years (range, 8-20) and were associated with a high-risk phenotype and a pre-existing nevus (62.2%). The spitzoid melanomas (n = 15 [27.7%]) were diagnosed in patients at a mean age of 12.5 years (range, 2-19) and were mostly de novo lesions (73.3%) located on the limbs (73.3%). Whereas less than 25% of PMs fulfilled the modified clinical ABCD criteria (amelanotic, bleeding bump, color uniformity, de novo at any diameter), 40% of spitzoid melanomas did. Dermoscopic melanoma criteria were found in all cases. Nonspitzoid melanomas tended to be multicomponent (58.3%) or have nevus-like (25%) dermoscopic patterns. Spitzoid melanomas revealed atypical vascular patterns with shiny white lines (46.2%) or an atypical pigmented spitzoid pattern (30.8%). There was good correlation between spitzoid subtype histopathologically and dermoscopically (κ = 0.66). LIMITATIONS: A retrospective study without re-review of pathologic findings. CONCLUSION: Dermoscopy in addition to conventional and modified clinical ABCD criteria helps in detecting PM. Dermoscopy assists in differentiating spitzoid from nonspitzoid melanomas.

21 Article Sentinel lymph node biopsy versus observation in thick melanoma: A multicenter propensity score matching study. 2018

Boada, Aram / Tejera-Vaquerizo, Antonio / Ribero, Simone / Puig, Susana / Moreno-Ramírez, David / Descalzo-Gallego, Miguel A / Fierro, María T / Quaglino, Pietro / Carrera, Cristina / Malvehy, Josep / Vidal-Sicart, Sergi / Bennássar, Antoni / Rull, Ramón / Alos, Llucìa / Requena, Celia / Bolumar, Isidro / Traves, Víctor / Pla, Ángel / Fernández-Figueras, María T / Ferrándiz, Carlos / Pascual, Iciar / Manzano, José L / Sánchez-Lucas, Marina / Giménez-Xavier, Pol / Ferrandiz, Lara / Nagore, Eduardo. ·Dermatology Department, Hospital Universitari Germans Trial i Pujol, Badalona, Universitat Autònoma de Barcelona, Spain. · Dermatology Department, Instituto Dermatológico GlobalDerm, Palma del Río, Córdoba, Spain. · Medical Sciences Department, Section of Dermatology, University of Turin, Italy. · Melanoma Unit, Dermatology Department, Hospital Clinic, Universitat de Barcelona, Institut d'investigacions biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. · Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Barcelona, Spain. · Melanoma Unit, Medical-&-Surgical Dermatology Department, Hospital Universitario Virgen Macarena, Sevilla, Spain. · Unidad de Investigación, Fundación Piel Sana, Academia Española de Dermatología, Madrid, Spain. · Nuclear Medicine Department, Hospital Clinic Barcelona, Universitat de Barcelona, Institut d'investigacions biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. · Surgery Department, Hospital Clinic, Barcelona, Spain. · Pathology Department, Hospital Clinic, Universidad de Barcelona, Barcelona, Spain. · Dermatology Department, Instituto Valenciano de Oncología, Valencia, Spain. · Surgery Department, Instituto Valenciano de Oncología, Valencia, Spain. · Pathology Department, Instituto Valenciano de Oncología, Valencia, Spain. · Otorhinolaringology Department, Instituto Valenciano de Oncología, Valencia, Spain. · Pathology Department, Hospital Universitari Germans Trial i Pujol, Badalona, Spain. · Surgery Department, Hospital Universitari Germans Trial i Pujol, Badalona, Spain. · Medical Oncology Department, Institut Català d'Oncologia, Hospital Universitari Germans Trial i Pujol, Badalona, Spain. · Grupo de Investigación, Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica, Hospital Universitario Virgen Macarena, Sevilla, Spain. ·Int J Cancer · Pubmed #28960289.

ABSTRACT: The clinical value of sentinel lymph node (SLN) biopsy in thick melanoma patients (Breslow >4 mm) has not been sufficiently studied. The aim of the study is to evaluate whether SLN biopsy increases survival in patients with thick cutaneous melanoma, and, as a secondary objective, to investigate correlations between survival and lymph node status. We included 1,211 consecutive patients with thick melanomas (>4 mm) registered in the participating hospitals' melanoma databases between 1997 and 2015. Median follow-up was 40 months. Of these patients, 752 were matched into pairs by propensity scores based on sex, age, tumor location, histologic features of melanoma, year of diagnosis, hospital and adjuvant interferon therapy. The SLN biopsy vs. observation was associated with better DFS [adjusted hazard ratio (AHR), 0.74; 95% confidence interval (CI) 0.61-0.90); p = 0.002] and OS (AHR, 0.75; 95% CI, 0.60-0.94; p = 0.013) but not MSS (AHR, 0.84; 95% CI, 0.65-1.08; p = 0.165). SLN-negative patients had better 5- and 10-year MSS compared with SLN-positive patients (65.4 vs. 51.9% and 48.3 vs. 38.8%; p = 0.01, respectively). As a conclusion, SLN biopsy was associated with better DFS but not MSS in thick melanoma patients after adjustment for classic prognostic factors. SLN biopsy is useful for stratifying these patients into different prognostic groups.

22 Article Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi. 2018

Vallone, María Gabriela / Tell-Marti, Gemma / Potrony, Miriam / Rebollo-Morell, Aida / Badenas, Celia / Puig-Butille, Joan Anton / Gimenez-Xavier, Pol / Carrera, Cristina / Malvehy, Josep / Puig, Susana. ·Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain. · Dermatology Department, Hospital Alemán, Buenos Aires, Argentina. · Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. · Biochemical and Molecular Genetics Service, Hospital Clínic, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain. · Medicine Department, Universitat de Barcelona, Barcelona, Spain. ·Pigment Cell Melanoma Res · Pubmed #28950052.

ABSTRACT: The melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of-function MC1R variants ("R") have been strongly associated with red hair color phenotype and an increased melanoma risk. We sequenced the MC1R gene in 175 healthy individuals to assess the influence of MC1R on nevus phenotype. We identified that MC1R variant carriers had larger nevi both on the back [p-value = .016, adjusted for multiple parameters (adj. p-value)] and on the upper limbs (adj. p-value = .007). Specifically, we identified a positive association between the "R" MC1R variants and visible vessels in nevi [p-value = .033, corrected using the FDR method for multiple comparisons (corrected p-value)], dots and globules in nevi (corrected p-value = .033), nevi with eccentric hyperpigmentation (corrected p-value = .033), a high degree of freckling (adj. p-value = .019), and an associative trend with presence of blue nevi (corrected p-value = .120). In conclusion, the MC1R gene appears to influence the nevus phenotype.

23 Article Dermoscopy Improves the Diagnostic Accuracy of Melanomas Clinically Resembling Seborrheic Keratosis: Cross-Sectional Study of the Ability to Detect Seborrheic Keratosis-Like Melanomas by a Group of Dermatologists with Varying Degrees of Experience. 2017

Carrera, Cristina / Segura, Sonia / Aguilera, Paula / Takigami, Carol Midori / Gomes, Antonio / Barreiro, Alicia / Scalvenzi, Massimiliano / Longo, Caterina / Cavicchini, Stefano / Thomas, Luc / Malvehy, Josep / Puig, Susana / Zalaudek, Iris. ·Melanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain. · Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. · Department of Dermatology, Hospital del Mar, Institut Hospital del Mar d'Investigacions Mèdiques, Universitat Autònoma de Barcelona, Barcelona, Spain. · Department of Dermatology, University of Naples Federico II, Naples, Italy. · Dermatology and Skin Cancer Unit, Arcispedale Santa Maria Nuova IRCCS, Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy. · UO Dermatologia, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy. · Department of Dermatology, Lyons Cancer Research Center, INSERM U1052, CNRS UMR5286, Centre Hospitalier Lyon-Sud, Lyon 1 University, Lyon, France. · Dermatology Clinic, Hospital Maggiore, University of Trieste, Trieste, Italy. ·Dermatology · Pubmed #29502116.

ABSTRACT: BACKGROUND: Malignant melanomas mimicking seborrheic keratosis (SK-like MMs) carry the risk of delayed diagnosis and inadequate treatment. The value of dermoscopy to improve the correct detection of these mimickers has not been previously studied. OBJECTIVE: To evaluate the diagnostic accuracy of clinically SK-like MMs with and without dermoscopy. METHODS: Clinical and dermoscopic images of histopathologically proven SK-like MMs (n = 134) intermingled with other melanomas and benign tumors were randomly presented to clinicians with different levels of experience, blinded to the diagnosis and goal of the study. Each participant classified each lesion as melanoma or benign tumor. The clinical and clinical-dermoscopic diagnostic accuracies were measured separately. RESULTS: Overall, 54 participants with a mean clinical experience of 15.8 years (SD 11.8) evaluated 231 tumors. Almost 40% of SK-like melanomas were clinically misclassified as benign tumor. Dermoscopy improved diagnostic accuracy for all participants, independently of experience, from 60.9 to 68.1% (p < 0.001), mostly due to a significant increase in the sensitivity (clinical 61.9% vs. dermoscopic 74.5%) (p < 0.001). Dermoscopy did not significantly affect specificity among the experienced participants (≥6 years of experience) compared to clinical examination (61.1 vs. 59.6%, respectively); in contrast, dermoscopy was associated with a decrease in specificity compared to clinical diagnosis among novice participants (< 6 years) (45.6 vs. 61.1%, respectively; p = 0.02). CONCLUSION: Melanomas can be clinically indistinguishable from SKs despite being evaluated by expert dermatologists. Dermoscopy, even in nonexpert hands, significantly improves their recognition.

24 Article Ultrasound-based follow-up does not increase survival in early-stage melanoma patients: A comparative cohort study. 2017

Ribero, S / Podlipnik, S / Osella-Abate, S / Sportoletti-Baduel, E / Manubens, E / Barreiro, A / Caliendo, V / Chavez-Bourgeois, M / Carrera, C / Cassoni, P / Malvehy, J / Fierro, M T / Puig, S. ·Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Dermatology Clinic, Department of Medical Sciences, University of Turin, Turin, Italy. · Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Institut D'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain. · Department of Medical Sciences, Section of Surgical Pathology, University of Turin, Italy. · Dermatology Clinic, Department of Medical Sciences, University of Turin, Turin, Italy. · Section of Dermatologic Surgery, AOU Citta Della Salute e Della Scienza di Torino, Turin, Italy. · Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain. · Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Department of Medical Sciences, Section of Surgical Pathology, University of Turin, Italy; CIBER on Rare Disease, Instituto de Salud Carlos III, Barcelona, Spain. · Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Institut D'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; CIBER on Rare Disease, Instituto de Salud Carlos III, Barcelona, Spain. · Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Institut D'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; CIBER on Rare Disease, Instituto de Salud Carlos III, Barcelona, Spain. Electronic address: susipuig@gmail.com. ·Eur J Cancer · Pubmed #28888850.

ABSTRACT: INTRODUCTION: Different protocols have been used to follow up melanoma patients in stage I-II. However, there is no consensus on the complementary tests that should be requested or the appropriate intervals between visits. Our aim is to compare an ultrasound-based follow-up with a clinical follow-up. PATIENTS AND METHODS: Analysis of two prospectively collected cohorts of melanoma patients in stage IB-IIA from two tertiary referral centres in Barcelona (clinical-based follow-up [C-FU]) and Turin (ultrasound-based follow-up [US-FU]). Kaplan-Meier curves were used to evaluate distant metastases-free survival (DMFS), disease-free interval (DFI), nodal metastases-free survival (NMFS) and melanoma-specific survival (MSS). RESULTS: A total of 1149 patients in the American Joint Committee on Cancer stage IB and IIA were included in this study, of which 554 subjects (48%) were enrolled for a C-FU, and 595 patients (52%) received a protocolised US-FU. The median age was 53.8 years (interquartile range [IQR] 41.5-65.2) with a median follow-up time of 4.14 years (IQR 1.2-7.6). During follow-up, 69 patients (12.5%) in C-FU and 72 patients (12.1%) in US-FU developed disease progression. Median time to relapse for the first metastatic site was 2.11 years (IQR 1.14-4.04) for skin metastases, 1.32 (IQR 0.57-3.29) for lymph node metastases and 2.84 (IQR 1.32-4.60) for distant metastases. The pattern of progression and the total proportion of metastases were not significantly different (P = .44) in the two centres. No difference in DFI, DMFS, NMFS and MSS was found between the two cohorts. CONCLUSION: Ultrasound-based follow-up does not increase the survival of melanoma patients in stage IB-IIA.

25 Article Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. 2017

Taylor, Nicholas J / Mitra, Nandita / Goldstein, Alisa M / Tucker, Margaret A / Avril, Marie-Françoise / Azizi, Esther / Bergman, Wilma / Bishop, D Timothy / Bressac-de Paillerets, Brigitte / Bruno, William / Calista, Donato / Cannon-Albright, Lisa A / Cuellar, Francisco / Cust, Anne E / Demenais, Florence / Elder, David E / Gerdes, Anne-Marie / Ghiorzo, Paola / Grazziotin, Thais C / Hansson, Johan / Harland, Mark / Hayward, Nicholas K / Hocevar, Marko / Höiom, Veronica / Ingvar, Christian / Landi, Maria Teresa / Landman, Gilles / Larre-Borges, Alejandra / Leachman, Sancy A / Mann, Graham J / Nagore, Eduardo / Olsson, Håkan / Palmer, Jane M / Perić, Barbara / Pjanova, Dace / Pritchard, Antonia / Puig, Susana / van der Stoep, Nienke / Wadt, Karin A W / Whitaker, Linda / Yang, Xiaohong R / Newton Bishop, Julia A / Gruis, Nelleke A / Kanetsky, Peter A / Anonymous3100973. ·Department of Epidemiology and Biostatistics, Texas A&M Health Science Center, College Station, Texas, USA. · Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. · Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA. · Assistance Publique-Hôpitaux de Paris, Hôpital Cochin et Université Paris Descartes, Paris, France. · Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. · Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands. · Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK. · Gustave Roussy, Université Paris-Saclay, Département de Biologie et Pathologie Médicales, INSERM, U1186, Villejuif, France. · Department of Internal Medicine and Medical Specialties, University of Genoa and IRCCS AOU San Martino-IST Genoa, Italy. · Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy. · Departments of Genetic Epidemiology and Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA. · Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain. · Sydney School of Public Health, University of Sydney, Sydney, New South Wales, Australia; Melanoma Institute Australia, Westmead, New South Wales, Australia. · Genetic Variation and Human Diseases Unit, UMR-946, INSERM, Université Paris Diderot, Université Sorbonne Paris Cité, Paris, France. · Departments of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. · Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark. · Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil. · Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden. · QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia. · Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia. · Departments of Clinical Sciences and Surgery, Lund University, Lund, Sweden. · Department of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo, Brazil. · Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay. · Department of Dermatology, Oregon Health & Science University, Portland, Oregon, USA. · Melanoma Institute Australia, Westmead, New South Wales, Australia; Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, New South Wales, Australia. · Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain. · Latvian Biomedical Research and Study Centre, Riga, Latvia. · Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA. Electronic address: peter.kanetsky@moffitt.org. ·J Invest Dermatol · Pubmed #28830827.

ABSTRACT: Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.

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