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Melanoma: HELP
Articles by Joseph Malvehy
Based on 123 articles published since 2008
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Between 2008 and 2019, J. Malvehy wrote the following 123 articles about Melanoma.
 
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5
1 Guideline Diagnosis and treatment of melanoma. European consensus-based interdisciplinary guideline--Update 2012. 2012

Garbe, Claus / Peris, Ketty / Hauschild, Axel / Saiag, Philippe / Middleton, Mark / Spatz, Alan / Grob, Jean-Jacques / Malvehy, Josep / Newton-Bishop, Julia / Stratigos, Alexander / Pehamberger, Hubert / Eggermont, Alexander M / Anonymous220737 / Anonymous230737 / Anonymous240737. ·University Department of Dermatology, Tuebingen, Germany. claus.garbe@med.uni-tuebingen.de ·Eur J Cancer · Pubmed #22981501.

ABSTRACT: Cutaneous melanoma (CM) is potentially the most dangerous form of skin tumour and causes 90% of skin cancer mortality. A unique collaboration of multi-disciplinary experts from the European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization of Research and Treatment of Cancer (EORTC) was formed to make recommendations on CM diagnosis and treatment, based on systematic literature reviews and the experts' experience. Diagnosis is made clinically and staging is based upon the AJCC system. CMs are excised with one to two centimetre safety margins. Sentinel lymph node dissection (SLND) is routinely offered as a staging procedure in patients with tumours more than 1mm in thickness, although there is as yet no clear survival benefit for this approach. Interferon-α treatment may be offered to patients with stage II and III melanoma as an adjuvant therapy, as this treatment increases at least the disease-free survival (DFS) and less clear the overall survival (OS) time. The treatment is however associated with significant toxicity. In distant metastasis, all options of surgical therapy have to be considered thoroughly. In the absence of surgical options, systemic treatment is indicated. BRAF inhibitors like vemurafenib for BRAF mutated patients as well as the CTLA-4 antibody ipilimumab offer new therapeutic opportunities apart from conventional chemotherapy. Therapeutic decisions in stage IV patients should be primarily made by an interdisciplinary oncology team ('tumour board').

2 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.

3 Guideline Diagnosis and treatment of melanoma: European consensus-based interdisciplinary guideline. 2010

Garbe, Claus / Peris, Ketty / Hauschild, Axel / Saiag, Philippe / Middleton, Mark / Spatz, Alain / Grob, Jean-Jacques / Malvehy, Josep / Newton-Bishop, Julia / Stratigos, Alexander / Pehamberger, Hubert / Eggermont, Alexander. ·Center for Dermatooncology, Department of Dermatology, 72076 Tübingen, Germany. claus.garbe@med.uni-tuebingen.de ·Eur J Cancer · Pubmed #19959353.

ABSTRACT: Cutaneous melanoma (CM) is potentially the most dangerous form of skin tumour and causes 90% of skin cancer mortality. A unique collaboration of multi-disciplinary experts from the European Dermatology Forum, the European Association of Dermato-Oncology and the European Organization of Research and Treatment of Cancer was formed to make recommendations on CM diagnosis and treatment, based on systematic literature reviews and the experts' experience. Diagnosis is made clinically and staging is based upon the AJCC system. CMs are excised with one to two centimetre safety margins. Sentinel lymph node dissection is routinely offered as a staging procedure in patients with tumours more than 1mm in thickness, although there is as yet no resultant survival benefit. Interferon-alpha treatment can be offered to patients with more than 1.5mm in thickness and stage II to III melanoma as an adjuvant therapy, as this treatment increases the relapse-free survival. The lack of a clear survival benefit and the presence of toxicity however limit its use in practice. In distant metastasis, all options of surgical therapy have to be considered thoroughly. In the absence of surgical options, systemic medical treatment is indicated, but with, to date, low response rates. Therapeutic decisions should be made by the melanoma team and the informed patient after full discussion of the options.

4 Editorial Dermoscopy in Europe: coming of age. 2016

Bahadoran, P / Malvehy, J. ·Department of Dermatology, Clinical Research Center, Archet Hospital, Nice, France. · Dermatology Department, Melanoma Unit, Hospital Clinic and IDIBAPS, Barcelona, Spain. ·Br J Dermatol · Pubmed #27996126.

ABSTRACT: -- No abstract --

5 Review Practical clinical guide on the use of talimogene laherparepvec monotherapy in patients with unresectable melanoma in Europe. 2018

Gutzmer, Ralf / Harrington, Kevin J / Hoeller, Christoph / Lebbé, Celeste / Malvehy, Josep / Öhrling, Katarina / Downey, Gerald / Dummer, Reinhard. ·Haut-Tumour-Zentrum Hannover (HTZH), Klinik für Dermatologie, Allergologie und Venerologie, Medizinische Hochschule Hannover (MHH), Hannover, Germany. · NIHR Biomedical Research Centre, The Institute of Cancer Research, London, UK. · Universitätsklinik für Dermatologie, Medizinische Universität Wien, Wien, Austria. · APHP Dermatology and CIC department INSERM U976, Sorbonne Paris Cité, Université Paris Diderot, Hôpital Saint-Louis, Paris, France. · Hospital Clinic of Barcelona, University of Barcelona, IDIBAPS, CIBER de Enfermedades Raras, FIS del Instituto de Salud Carlos III, Barcelona, Spain. · Medical Development, Amgen (Europe) GmbH, Rotkreuz, Switzerland. · Biostatistics, Amgen Ltd, Cambridge, UK. · Skin Cancer Centre/Dermatology Clinic, Universitätsspital Zürich, Zürich, Switzerland. ·Eur J Dermatol · Pubmed #30698145.

ABSTRACT: Talimogene laherparepvec, a herpes simplex virus type 1-based intralesional oncolytic immunotherapy, is approved in Europe for the treatment of adults with unresectable stage IIIB-IVM1a melanoma, with no bone, brain, lung or other visceral disease. It has direct oncolytic effects in injected lesions, leading to the release of tumour-derived antigens and systemic immune effects mediated by the induction of anti-tumour immunity, which is enhanced by the production of granulocyte macrophage colony-stimulating factor. Responses (which occur in >40% of stage IIIB-IVM1a patients) are often durable (>50% last ≥6 months) and occur in injected and uninjected lesions (in stage IIIB-IVM1c patients, 64%/34% of evaluable injected/uninjected non-visceral lesions, respectively, decreased in size by ≥50%). As with other immunotherapies, responses may be delayed or can arise after pseudoprogression. The pattern of treatment-emergent adverse events is distinct, being mostly grade 1/2, easy to manage, and rarely leading to treatment discontinuation. Systemic therapy represents the backbone of care for many metastatic melanoma patients. Nonetheless, the potential for durable locoregional control with a locally injected agent may make talimogene laherparepvec suitable for selected patients with stage IIIB/C disease, for whom surgery is not possible (e.g. with in-transit metastases, multiple melanoma lesions at different body sites, or those relapsing rapidly after repeated rounds of surgery) and slowly progressing disease. Here, we discuss which patients could be suitable for talimogene laherparepvec monotherapy based on the European indication, review the patterns/timing of response, and discuss the incidence/management of adverse events. Its potential use combined with immune checkpoint inhibitors is also discussed.

6 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.

7 Review Treatment patterns of advanced malignant melanoma (stage III-IV) - A review of current standards in Europe. 2016

Harries, Mark / Malvehy, Josep / Lebbe, Céleste / Heron, Louise / Amelio, Justyna / Szabo, Zsolt / Schadendorf, Dirk. ·Guy's & St Thomas' Hospitals NHS Foundation Trust, London, UK. Electronic address: Mark.Harries@gstt.nhs.uk. · Servicio de Dermatología, Hospital Clínic de Barcelona, Catalonia, Spain. · Assistance Publique - Hôpitaux de Paris (AP-HP) Hôpital Saint-Louis, Dermatology Department Université Paris-Diderot, Sorbonne Paris Cité, INSERM UMR-S 976, Paris, France. · Adelphi Values, Bollington, UK. · Amgen Ltd., Uxbridge, London UK. · Amgen GmbH, Zug, Switzerland. · Klinik für Dermatologie, Universitätsklinikum Essen, Essen, Germany. ·Eur J Cancer · Pubmed #27118416.

ABSTRACT: AIMS AND BACKGROUND: With the recent emergence of immunotherapies and novel targeted treatments for advanced and metastatic melanoma such as selective B-Raf inhibitors and checkpoint inhibitors, the treatment landscape in Europe has changed considerably. The aim of this review was to provide an overview of current treatment pathways in Europe for the treatment of advanced melanoma, unresectable stage III-IV. METHODS: A literature search of four databases was conducted to identify publications reporting on the treatment patterns of advanced and metastatic melanoma (stage III-IV) in European populations. RESULTS: Seven full-text publications and two conference abstracts reported on observational studies of melanoma treatment practices in France, Italy and the United Kingdom. Treatment patterns were identified for two time periods: 2005-2009 and 2011-2012. Common treatments reported for both periods included chemotherapy with dacarbazine, fotemustine or temozolomide. The main differences between the two periods were the introduction and prescription of immunotherapy ipilimumab and targeted therapy vemurafenib between 2011 and 2012. Across the three countries studied, the types of treatments prescribed between 2005 and 2009 were relatively similar, however, with noticeable differences in the frequency and priority of administration. CONCLUSION: Treatment practices for advanced melanoma vary markedly across different European countries and continue to evolve with the introduction of new therapies. The results of this review highlight a considerable evidence gap with regards to recent treatment patterns for advanced melanoma in Europe, especially post-2011 after the introduction of novel therapeutic agents, and more recently with the introduction of programmed cell death 1 inhibitors.

8 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.

9 Review Spanish Multidisciplinary Melanoma Group (GEM) guidelines for the management of patients with advanced melanoma. 2015

Berrocal, Alfonso / Espinosa, Enrique / Marín, Severiano / Malvehy, Josep / Moreno, David / Lozano, Maria Dolores / Martin-Algarra, Salvador / Lopez, Jose Antonio / Conill, Carlos / Rodriguez-Peralto, Jose Luis. ·Department of Oncology. · Service of Oncology, Hospital La Paz, Madrid, Spain. · Plastic Surgery, Consorcio Hospital General Universitario, Avda, Tres Cruces, 2, 46014 Valencia, Spain. · Dermatology Department, Melanoma Unit, Hospital Clinic, Barcelona, Spain. · Dermatology Unit, Hospital Universitario Virgen Macarena, Seville, Spain. · Department of Pathology. · Department of Oncology, Clinica Universitaria de Navarra, Pamplona, Spain. · Department of Radiation Oncology, Hospital Clinic, Institut d'Investigacions Biomédiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Spain. · Department of Pathology, Hospital 12 de Octubre, Madrid, Spain. ·Eur J Dermatol · Pubmed #26693633.

ABSTRACT: Advanced melanoma is a relatively uncommon condition whose therapeutic management has undergone major changes over the past four years. The present article aims to establish recommendations for the management of these patients based on the best available evidence reached by consensus of a group of professionals familiar in the treatment of these patients. These professionals, belonging to Spanish Multidisciplinary Melanoma Group, reviewed the diagnostic process and the incorporation of new techniques of molecular diagnosis of advanced disease; treatment and monitoring of stage III both as adjuvant locoregional treatments have been addressed, as well as new therapies for stage IV. We have reviewed the palliative treatment alternatives for disseminated disease, such as surgery, radiotherapy or non-cytotoxic systemic treatments. Finally, we have also reviewed the most relevant toxicities of new drugs and their management in clinical practice.

10 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.

11 Review Dermoscopy for the pediatric dermatologist part III: dermoscopy of melanocytic lesions. 2013

Haliasos, Elena C / Kerner, Miryam / Jaimes, Natalia / Zalaudek, Iris / Malvehy, Josep / Hofmann-Wellenhof, Rainer / Braun, Ralph P / Marghoob, Ashfaq A. ·Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Brunswick, New Jersey, USA. ·Pediatr Dermatol · Pubmed #23252411.

ABSTRACT: Melanocytic nevi encompass a variety of lesions, including blue, Spitz, congenital, and acquired nevi. These nevi can occasionally manifest clinical morphologies resembling melanoma, and the presence of such nevi in children can elicit anxiety in patients, parents, and clinicians. Dermoscopy has been shown to increase the diagnostic accuracy for melanoma and to help differentiate melanoma from nevi, ultimately aiding in the decision-making process as to whether to perform a biopsy. Dermoscopy is the perfect instrument to use during the evaluation of pigmented skin lesions in children because it is painless and provides important information for the clinician that can assist in formulating appropriate management decisions. This review highlights the most common benign dermoscopic patterns encountered in nevi and discuss the 10 most common dermoscopic structures seen in melanomas. Lesions manifesting a benign dermoscopic pattern and lacking any melanoma-specific structures do not need to be excised and can safely be monitored. In contrast, melanomas will invariably deviate from the benign nevus patterns and will usually manifest at least 1 of the 10 melanoma-specific structures: atypical network, negative network, streaks, crystalline structures, atypical dots and globules, irregular blotch, blue-white veil, regression structures, peripheral brown structureless areas, and atypical vessels. It is important to be cognizant of the fact that melanomas in childhood usually do not manifest the clinical ABCD features. Instead, they are often symmetric, amelanotic, nodular lesions. Although the clinical appearance may not be alarming, with dermoscopy they will invariably manifest at least one melanoma-specific structure, the most common being atypical vascular structures and crystalline structures.

12 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.

13 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.

14 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.

15 Review Dermoscopy of benign and malignant neoplasms in the pediatric population. 2010

Haliasos, Helen C / Zalaudek, Iris / Malvehy, Josep / Lanschuetzer, Christoph / Hinter, Helmut / Hofmann-Wellenhof, Rainer / Braun, Ralph / Marghoob, Ashfaq A. ·Division of Dermatology, Medical University of Graz, Graz, Austria. ·Semin Cutan Med Surg · Pubmed #21277535.

ABSTRACT: Dermoscopy is a noninvasive technique that enables visualization of subsurface colors and structures within the skin that are imperceptible to the naked eye. The dermatoscope allows the physician to examine both the macroscopic and microscopic primary morphology of skin lesions, identify subtle clinical clues, confirm naked-eye clinical diagnoses, and monitor treatment progress while posing little threat to the young patient. Dermoscopic findings have been formulated into diagnostic criteria that assist experienced clinicians in differentiating benign and malignant neoplasms. In this review, clinical morphology of melanocytic nevi and melanoma in the pediatric population is examined and the relevant dermoscopic findings and histopathologic correlates that aid in the diagnosis and management of these lesions are described.

16 Review The most common challenges in melanoma diagnosis and how to avoid them. 2009

Marghoob, Ashfaq A / Changchien, Lily / DeFazio, Jennifer / Dessio, Whitney C / Malvehy, Josep / Zalaudek, Iris / Halpern, Allan C / Scope, Alon. ·Dermatology Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10022, USA. marghooa@mskcc.org ·Australas J Dermatol · Pubmed #19178485.

ABSTRACT: Due to its particularly lethal nature and tendency to affect relatively young individuals, the timely diagnosis of melanoma remains of paramount importance for clinicians and their patients. Unfortunately, melanomas can mimic benign lesions that are overwhelmingly more common in the population than are melanomas, and misdiagnosis or delay in diagnosis of melanoma can occur. Misdiagnosis of melanoma serves as one of the most common causes for malpractice litigation brought against medical practitioners. In this review we describe seven clinical scenarios that represent challenges in melanoma diagnosis and discuss potential strategies for avoiding the errors that commonly give rise to those scenarios.

17 Clinical Trial Oncolytic Virotherapy Promotes Intratumoral T Cell Infiltration and Improves Anti-PD-1 Immunotherapy. 2017

Ribas, Antoni / Dummer, Reinhard / Puzanov, Igor / VanderWalde, Ari / Andtbacka, Robert H I / Michielin, Olivier / Olszanski, Anthony J / Malvehy, Josep / Cebon, Jonathan / Fernandez, Eugenio / Kirkwood, John M / Gajewski, Thomas F / Chen, Lisa / Gorski, Kevin S / Anderson, Abraham A / Diede, Scott J / Lassman, Michael E / Gansert, Jennifer / Hodi, F Stephen / Long, Georgina V. ·University of California at Los Angeles, Jonsson Comprehensive Cancer Center, Los Angeles, CA, USA. Electronic address: aribas@mednet.ucla.edu. · University Hospital of Zurich, Zurich, Switzerland. · Roswell Park Cancer Institute, Buffalo, NY, USA. · The West Clinic, Memphis, TN, USA. · University of Utah Huntsman Cancer Institute, Salt Lake City, UT, USA. · Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. · Fox Chase Cancer Center, Philadelphia, PA, USA. · Hospital Clinic i Provincial de Barcelona, Barcelona, Spain. · Olivia Newton-John Cancer Research Institute, Austin Health, School of Cancer Medicine, LaTrobe University, Heidelberg, VIC, Australia. · Hopitaux Universitaires de Genève, Geneva, Switzerland. · University of Pittsburgh Cancer Institute and Hillman UPMC Cancer Center, Pittsburgh, PA, USA. · The University of Chicago School of Medicine, Chicago, IL, USA. · Amgen Inc., Thousand Oaks, CA, USA. · Amgen Inc., South San Francisco, CA, USA. · Merck & Co., Inc., Kenilworth, NJ, USA. · Dana-Farber Cancer Institute, Boston, MA, USA. · Melanoma Institute Australia, The University of Sydney and Royal North Shore and Mater Hospitals, Sydney, NSW, Australia. ·Cell · Pubmed #28886381.

ABSTRACT: Here we report a phase 1b clinical trial testing the impact of oncolytic virotherapy with talimogene laherparepvec on cytotoxic T cell infiltration and therapeutic efficacy of the anti-PD-1 antibody pembrolizumab. Twenty-one patients with advanced melanoma were treated with talimogene laherparepvec followed by combination therapy with pembrolizumab. Therapy was generally well tolerated, with fatigue, fevers, and chills as the most common adverse events. No dose-limiting toxicities occurred. Confirmed objective response rate was 62%, with a complete response rate of 33% per immune-related response criteria. Patients who responded to combination therapy had increased CD8

18 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 --

19 Article Evaluation of large clinically atypical vulvar pigmentation with RCM: atypical melanosis or early melanoma? 2019

Theillac, C / Cinotti, E / Malvehy, J / Ronger Savle, S / Balme, B / Robinson, P / Perrot, J L / Douchet, C / Biron Schneider, A C / Alos, L / Garcia, A / Barreiro, A / Labeille, B / Duru, G / Dalle, S / Thomas, L / Debarbieux, S. ·Dermatology Department, Centre Hospitalier de Lyon Sud, Hospices civils de Lyon, Université Claude Bernard Lyon 1, Pierre Bénite, France. · Dermatology Department, University Hospital of Saint-Etienne, Saint-Etienne, France. · Pour le Groupe Imagerie Cutanée Non Invasive de la Société Française de Dermatologie, Paris, France. · Dermatology Department, Hospital Clinic of Barcelona, University of Barcelona, IDIBAPS, Barcelona, Spain. · Pathology Department, Centre Hospitalier de Lyon Sud, Lyon, France. · DRCI, Hospices Civils de Lyon, Lyon, France. · Pathology Department, University Hospital of Saint-Etienne, Saint-Etienne, France. · Pathology Department, Hospital Clinic of Barcelona, Barcelona, Spain. · Department of Biostatistics, Université Claude Bernard Lyon 1, Villeurbanne, France. ·J Eur Acad Dermatol Venereol · Pubmed #29920797.

ABSTRACT: BACKGROUND: Vulvar melanosis can occasionally be clinically challenging by mimicking an early melanoma. OBJECTIVE: To report our experience of initial evaluation and follow-up in this peculiar subset of vulvar melanosis using reflectance confocal microscopy (RCM). METHODS: We retrospectively evaluated 18 consecutive cases referred for atypical vulvar pigmentation or for which melanoma was considered and that underwent both RCM examination and histopathological assessment. In 13 cases with available dermoscopic pictures, RCM classification was compared to dermoscopic diagnosis, and in all cases, the density of melanocytes was evaluated on biopsies using MelanA immunostaining. RESULTS: Among the 18 atypical pigmented lesions, 17 vulvar melanosis and one melanoma were histologically determined. RCM concluded a benign vulvar melanosis in 10 of 17 cases, whereas dermoscopy did so in three of 12 cases. RCM identified the only early malignant lentiginous melanoma. In several cases of vulvar melanosis, RCM could identify foci of melanocytic hyperplasia in an otherwise benign pattern. CONCLUSIONS: In this clinically and dermoscopically challenging subset of vulvar pigmentations, RCM appears relevant for initial extensive evaluation, especially to target initial biopsy sampling, and to perform non-invasive monitoring of foci of melanocytic hyperplasia.

20 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.

21 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.

22 Article Lymph Node Dissection in Patients With Melanoma and Sentinel Lymph Node Metastasis: An Updated, Evidence-Based Decision Algorithm. 2018

Moreno-Ramírez, D / Boada, A / Ferrándiz, L / Samaniego, E / Carretero, G / Nagore, E / Redondo, P / Ortiz-Romero, P / Malvehy, J / Botella-Estrada, R / Anonymous1781029. ·Servicio de Dermatología, Hospital Clínic, Barcelona, España. Electronic address: dmoreno@e-derma.org. · Servicio de Dermatología, Hospital Universitario Germans Trias i Pujol, Badalona, España. · Unidad de Gestión Clínica de Dermatología, Hospital Universitario Virgen Macarena, Sevilla, España. · Servicio de Dermatología, Complejo Hospitalario de León, León, España. · Servicio de Dermatología, Hospital Universitario Gran Canaria Dr. Negrín, Las Palmas, España. · Servicio de Dermatología, Instituto Valenciano de Oncología, Valencia, España. · Departamento de Dermatología, Clínica Universidad de Navarra, Pamplona, España. · Servicio de Dermatología, Hospital Universitario 12 de Octubre, Madrid, España. · Servicio de Dermatología, Hospital Clínic, Barcelona, España. · Servicio de Dermatología, Hospital Universitario La Fe, Valencia, España. ·Actas Dermosifiliogr · Pubmed #29650221.

ABSTRACT: Recent publication of the results of clinical trials in which lymph node dissection was not associated with any survival benefit in patients with sentinel node metastasis makes it necessary to reconsider the treatment of patients with melanoma. This article provides an update on the available evidence on the diverse factors (routes of metastatic spread, predictors, adjuvant therapy, etc.) that must be considered when treating patients with sentinel node-positive melanoma. The authors propose a decision-making algorithm for use in this clinical setting. The current evidence no longer supports lymph node dissection in patients with low-risk sentinel node metastasis (sentinel node tumor load ≤1mm).

23 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.

24 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.

25 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.

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