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Melanoma: HELP
Articles by Jeffrey A. Bubley
Based on 7 articles published since 2008
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Between 2008 and 2019, J. Bubley wrote the following 7 articles about Melanoma.
 
+ Citations + Abstracts
1 Review Pigmented onychomatricoma: a rare mimic of subungual melanoma. 2018

Isales, M C / Haugh, A M / Bubley, J / Zarkhin, S / Bertler, D / Hanson, E / Verzi, A E / Brieva, J / Guitart, J / Gerami, P. ·Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. · Marian University College of Osteopathic Medicine, Indianapolis, IN, USA. · Forefront Dermatology, De Pere, WI, USA. ·Clin Exp Dermatol · Pubmed #29473193.

ABSTRACT: -- No abstract --

2 Review Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. 2017

Haugh, Alexandra M / Njauw, Ching-Ni / Bubley, Jeffrey A / Verzì, Anna Elisa / Zhang, Bin / Kudalkar, Emily / VandenBoom, Timothy / Walton, Kara / Swick, Brian L / Kumar, Raj / Rana, Huma Q / Cochrane, Sarah / McCormick, Shelley R / Shea, Christopher R / Tsao, Hensin / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Massachusetts General Hospital Cancer Center, Boston. · Wellman Center for Photomedicine, Department of Dermatology, Massachusetts General Hospital, Boston. · Department of Dermatology, University of Iowa Hospitals and Clinics, and Iowa City VAMC, Iowa City. · Dana Farber Cancer Institute, Boston, Massachusettss. · Section of Dermatology, University of Chicago Medicine, Chicago, Illinois. · The Robert H. Lurie Cancer Center, Northwestern University, Chicago, Illinois. ·JAMA Dermatol · Pubmed #28793149.

ABSTRACT: Importance: Patients with germline mutations in BAP1 may develop several flesh-colored melanocytic BAP1-mutated atypical intradermal tumors (MBAITs). These tumors generally develop earlier than other BAP1-associated tumors, highlighting an important role for dermatologists in identifying and screening patients with a history suggestive of a germline mutation. Objective: To describe 8 new families with germline mutations in BAP1 and provide a comprehensive review of reported cases. Design, Settings and Participants: Patients were identified in an outpatient dermatology clinical setting over a 6-month period (10 mutation carriers from 8 families) and through a literature review using PubMed (205 patients). Exposures: Mutations were identified through next-generation sequencing of saliva or blood samples, and RNA was extracted from fibroblasts cultured from a patient with an intronic variant to determine the impact of the mutation on the coding sequence. Main Outcomes and Measures: All 215 patients were assessed for personal and/or family history and genotype. These findings were compiled and assessed for any association between genotype and phenotype. Results: Overall, this study included 215 patients (108 women, 91 men, and 16 gender unspecified; median [range] age, 46.5 [10.0-79.0] years). Nine of the 10 patients who were identified in the outpatient dermatology setting were found to have MBAITs on clinical examination. Forty of 53 patients (75%) identified in the literature review who underwent total-body skin examinations (TBSE) were found to have MBAITs, suggesting a high penetrance in patients who have undergone TBSE. The most prevalent malignancies among BAP1 mutation carriers were uveal melanoma (n =  60 [28%]), mesothelioma (n = 48 [22%]), cutaneous melanoma (n = 38 [18%]), and renal cell carcinoma (n = 20 [9%]). A total of 71 unique mutations in BAP1 have been reported. Conclusions and Relevance: Our results indicate that germline mutations in both coding and noncoding regions throughout the BAP1 gene can impair protein function, leading to an increased risk for several associated malignancies. Four of the 8 probands we present had no history of BAP1-associated malignancies and were assessed for germline mutations when found to have MBAITs on dermatologic examination. Dermatologists can identify patients with a high likelihood of the BAP1 cancer syndrome through personal and family history and TBSE for the presence of possible MBAITs.

3 Article Immunohistochemical and molecular analysis of spitzoid neoplasms with pulverocyte subclones. 2018

Amin, S M / Haugh, A M / Bubley, J A / Verzì, A E / Merkel, E A / Lee, C Y / Quan, V L / Garfield, E M / Sholl, L M / Zhang, B / Gerami, P. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. · The Robert H. Lurie Cancer Center, Northwestern University, Chicago, IL, USA. ·Clin Exp Dermatol · Pubmed #29779219.

ABSTRACT: BACKGROUND: Clonal naevi are characterized by a focal proliferation of pigmented melanocytes in an otherwise banal naevus. These subclones are often composed of aggregates of larger, epithelioid melanocytes with nuclear atypia and dusty-grey cytoplasmic pigmentation, which are referred to as 'pulverocytes', and this finding may lead to a misdiagnosis of malignant melanoma (MM). AIM: To characterize the significance of subclones of dusty-grey pigmented epithelioid melanocytes within spitzoid neoplasms. METHODS: We studied the histological and molecular features of a series of 20 spitzoid neoplasms with pulverocyte subclones encountered in our practice, including both atypical Spitz tumours (ASTs) and invasive MMs. RESULTS: Pulverocytes were predominantly dermal, and the percentage of subclones ranged from 2% to 40%, with a median of 10% in ASTs and 25% in lesions we classified as MM. In cases with > 10% subclones, there was an increased odds of fluorescence in situ hybridization positivity (OR = 12; 95% CI 1.2-293.4; P = 0.03) and an increased odds of homozygous 9p21 deletion (OR = 3.6; 95 CI 0.28-89.82; P = 0.33), although the latter did not reach statistical significance. CONCLUSIONS: We consider spitzoid lesions with a small subclone population to be a variant of a clonal naevus with indolent behaviour, whereas lesions with larger pulverocyte populations are more likely to have chromosomal copy number aberrations and in some cases may represent malignant transformation.

4 Article Distinct Patterns of Acral Melanoma Based on Site and Relative Sun Exposure. 2018

Haugh, Alexandra M / Zhang, Bin / Quan, Victor L / Garfield, Erin M / Bubley, Jeffrey A / Kudalkar, Emily / Verzi, Anna Elisa / Walton, Kara / VandenBoom, Timothy / Merkel, Emily A / Lee, Christina Y / Tan, Timothy / Isales, Maria Cristina / Kong, Betty Y / Wenzel, Alexander T / Bunick, Christopher G / Choi, Jaehyuk / Sosman, Jeffrey / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. · Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. · Department of Dermatology, Yale University, New Haven, Connecticut, USA. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Chicago, Illinois, USA. · Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. Electronic address: pgerami1@nm.org. ·J Invest Dermatol · Pubmed #28870692.

ABSTRACT: Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n = 21), volar (n = 9), and subungual/interdigital (n = 13) acral skin as well as acral nevi (n = 24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared with volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (P = 0.01), were significantly less likely to have the superficial spreading histologic subtype (P = 0.01), occurred in older patients (P = 0.05), and had more frequent involvement in non-Caucasians (P = 0.01). These differences can be explained by differing levels of UV exposure. Subungual/interdigital melanomas had the most diverse group of oncogenic mutations including PIK3CA (2/13), STK11 (2/13), EGFR (1/13), FGFR3 (1/13), and PTPN11 (1/13). In addition, subungual/interdigital melanomas had a significantly higher frequency of copy number aberrations (67%) than other subgroups (P = 0.02), particularly in CDK4 and cyclin D1, and were less likely to have BRAF mutations or a superficial spreading histologic subtype (P = 0.05) compared with volar acral melanomas. Although based on a limited sample size, differences between volar and subungual/interdigital melanomas in our study may be the result of differing levels of UV exposure.

5 Article A single-institution assessment of superficial spreading melanoma (SSM) in the pediatric population: Molecular and histopathologic features compared with adult SSM. 2017

Verzì, Anna Elisa / Bubley, Jeffrey A / Haugh, Alexandra M / Zhang, Bin / Wagner, Annette / Kruse, Lacey / West, Dennis P / Wayne, Jeffrey / Guitart, Joan / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois. · Department of Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Robert H. Lurie Cancer Center, Northwestern University, Chicago, Illinois. Electronic address: pgerami1@nm.org. ·J Am Acad Dermatol · Pubmed #28754310.

ABSTRACT: BACKGROUND: The epidemiology of pediatric melanoma is distinct from that seen in adults. This is more distinguishable when pediatric patients are separated into prepubertal and adolescent groups. OBJECTIVE: In this study, we compared epidemiologic, clinical, histologic, and molecular characteristics of pediatric superficial spreading melanoma (SSM) in prepubertal and adolescent patients to that in adults. METHOD: We reviewed our database for pediatric melanomas, comparing SSM data between pediatric and adult cases for pathologic stage at presentation, ratio of radial to vertical growth phase, average Breslow depth and mitotic index, and frequency of fluorescence in situ hybridization (FISH) positivity. RESULTS: Of 84 pediatric melanomas, 38 were SSM, and 5 of the latter (6%) were prepubertal. There were no significant differences when pediatric and adult SSM were compared for stage at presentation, ratio of radial to vertical growth phase, average Breslow depth and mitotic count, or frequency of FISH positivity. A significant difference was detected for SSM arising from a precursor nevus (80% of pediatric cases versus 30% of adult cases). LIMITATIONS: Follow-up time was limited for both cohorts. CONCLUSIONS: SSM melanoma is infrequent in childhood, particularly in the prepubertal years. Features such as tumor stage, Breslow depth, mitotic activity, and FISH positivity suggest morphologic and molecular characteristics similar to those of adult SSM.

6 Article A clinical, histologic, and follow-up study of genital melanosis in men and women. 2017

Haugh, Alexandra M / Merkel, Emily A / Zhang, Bin / Bubley, Jeffrey A / Verzì, Anna Elisa / Lee, Christina Y / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Robert H. Lurie Cancer Center, Northwestern University, Chicago, Illinois. Electronic address: pgerami1@nm.org. ·J Am Acad Dermatol · Pubmed #27986395.

ABSTRACT: BACKGROUND: Genital melanosis may clinically mimic melanoma. Little is known about the potential risk for genital and nongenital melanoma in these patients. OBJECTIVE: In this retrospective cohort study, we analyzed clinical and histologic data from patients with genital melanosis to better characterize these lesions and the risk they confer for genital and nongenital melanoma. METHODS: In all, 41 patients were identified for a retrospective chart review and histologic analysis. RESULTS: Genital melanosis can clinically mimic melanoma but the typical age of onset is younger than for genital melanoma. A majority of lesions were found to stabilize or regress over time. Five patients were found to have a history of melanoma, only 1 of which was in the genital region. Lesions from these patients were more likely to show melanocytes with suprabasal movement (P = .0101) and to have a higher melanocyte count (P < .0462). LIMITATIONS: We present a relatively small cohort of patients with an average follow-up of only 30.5 months. CONCLUSION: Patients with genital melanosis, and in particular those with any level of histologic atypia in the genital melanosis lesion, may require careful total body skin examinations for the possibility of melanoma in any body site.

7 Article A Comparison of Morphologic and Molecular Features of BRAF, ALK, and NTRK1 Fusion Spitzoid Neoplasms. 2017

Amin, Sapna M / Haugh, Alexandra M / Lee, Christina Y / Zhang, Bin / Bubley, Jeffrey A / Merkel, Emily A / Verzì, Anna Elisa / Gerami, Pedram. ·*Department of Dermatology, Feinberg School of Medicine †The Robert H. Lurie Cancer Center, Northwestern University, Chicago, IL. ·Am J Surg Pathol · Pubmed #27776007.

ABSTRACT: Recent studies have identified translocations involving the kinase domains of ALK, NTRK1, BRAF, RET, and ROS in spitzoid neoplasms. Subsequent studies have also characterized morphologic features corresponding to ALK and NTRK1 translocations. In this study, we sought to further compare morphologic features across a range of 49 genetically defined spitzoid neoplasms with ALK, NTRK1, BRAF, or RET fusions to determine discriminating features. We also compared them with a group of 22 spitzoid neoplasms, which were confirmed to be negative for fusions in ALK, NTRK1, BRAF, and RET. Features with the highest discriminatory value included diameter of the lesion, dermal architecture, and certain cytomorphologic features. Specifically, cases with a large diameter (≥9 mm) and wedge-shaped, plexiform dermal architecture of nests of large, spindle-shaped cells were most likely to have an ALK fusion. NTRK1-fused cases were most likely of the fusions to have Kamino bodies and were typically arranged in smaller nests with smaller predominantly spindle-shaped cells, occasionally forming rosettes. BRAF fusion cases were the only fusion subtype to have a predominance of epithelioid cells, were less organized in nests, and commonly had a sheet-like growth pattern or dysplastic Spitz architecture. BRAF fusion cases were most likely to have high-grade nuclear atypia, to be diagnosed as spitzoid melanoma, to have a positive result by melanoma fluorescence in situ hybridization assay, and to develop copy number gains in the kinase domain of the fusion protein. On the basis of experience from this cohort, BRAF-fused cases appear most likely to progress to melanoma.