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1.
J Invest Dermatol ; 136(9): 1858-1865, 2016 09.
Article in English | MEDLINE | ID: mdl-27220476

ABSTRACT

Genital melanomas (GM) are the second most common cancer of the female external genitalia and may be confused with atypical genital nevi (AGN), which exhibit atypical histological features but have benign behavior. In this study, we compared the clinical, histological, and molecular features of 19 GM and 25 AGN. We described chromosomal copy number aberrations and the mutational status of 50 oncogenes and tumor suppressor genes in both groups. Our study showed that a pigmented lesion occurring in mucosal tissue, particularly in postmenopausal women, was more likely to be a melanoma than a nevus. GM had high levels of chromosomal instability, with many copy number aberrations. Furthermore, we found a completely nonoverlapping pattern of oncogenic mutations when comparing GM and AGN. In GM, we report somatic mutations in KIT and TP53. Conversely, AGN had frequent BRAF V600E mutations, which were not seen in any of the GM. Our results show that GM and AGN have distinct clinical and molecular changes and that GM have a different mutational pattern compared with AGN.


Subject(s)
Dysplastic Nevus Syndrome/genetics , Genital Neoplasms, Female/genetics , Melanoma/genetics , Mutation, Missense , Skin Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Biopsy, Needle , Diagnosis, Differential , Dysplastic Nevus Syndrome/pathology , Female , Genital Neoplasms, Female/pathology , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Melanoma/pathology , Middle Aged , Skin Neoplasms/pathology
2.
JAMA Dermatol ; 151(11): 1235-9, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26154183

ABSTRACT

IMPORTANCE: Several kindreds having germline BAP1 mutations with a propensity for uveal and cutaneous melanomas and other internal malignancies have been described in an autosomal dominant tumor predisposition syndrome. However, clinically atypical moles have not been previously recognized as a component of this syndrome, to our knowledge. We describe the first kindred to date with a germline mutation in BAP1 associated with multiple cutaneous melanomas and classic dysplastic nevus syndrome. OBSERVATIONS: We describe a 53-year-old man who was initially seen in 2003 with dysplastic nevus syndrome, multiple atypical melanocytic proliferations showing loss of immunostaining for BAP1, and 7 cutaneous melanomas. Germline testing was performed in the proband, his 16-year-old son, and his 13-year-old daughter, revealing a germline mutation in the BAP1 gene (c.592G>T, p.Glu198X) in the proband and in his 16-year-old son. CDKN2A and CDK4 genes were wild type. No members of this kindred reported a history of uveal melanoma. CONCLUSIONS AND RELEVANCE: To our knowledge, this is the first report of a patient with multiple melanomas, dysplastic nevus syndrome, and an inactivating germline BAP1 mutation. The coexistence of dysplastic nevus syndrome and a BAP1 germline mutation extends the spectrum of the BAP1 tumor predisposition syndrome and may confer a greater risk for cutaneous melanomas.


Subject(s)
Dysplastic Nevus Syndrome/pathology , Melanoma/pathology , Skin Neoplasms/pathology , Tumor Suppressor Proteins/genetics , Ubiquitin Thiolesterase/genetics , Adolescent , Dysplastic Nevus Syndrome/genetics , Female , Germ-Line Mutation , Humans , Male , Melanoma/genetics , Middle Aged , Mutation , Nevus/pathology , Skin Neoplasms/genetics
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