Vulvar Melanoma in association with germline MITF p.E318K variant.

TitleVulvar Melanoma in association with germline MITF p.E318K variant.
Publication TypeJournal Article
Year of Publication2022
AuthorsKoeller DR, Schwartz A, DeSimone MS, Rana HQ, Rojas-Rudilla V, Russell-Goldman E, Laga AC, Lindeman NI, Garber JE, Ghazani AA
JournalCancer Genet
Date Published2022 Apr
KeywordsFemale, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Melanoma, Melanoma, Cutaneous Malignant, Microphthalmia-Associated Transcription Factor, Middle Aged, Skin Neoplasms

Vulvar melanoma is a rare and aggressive cancer with a poor prognosis. The etiology of mucosal melanoma remains largely uncharacterized and no hereditary risk factors are established for this rare disease. While the germline variant MITF p.E318K confers an increased risk for cutaneous melanoma, this variant has not been associated with risk of non-cutaneous melanoma. Herein, we describe the presence of a germline MITF p.E318K pathogenic variant in a 47-year-old woman with vulvar melanoma and a family history of cutaneous melanoma in a first-degree relative. To our knowledge, this is the first reported case of MITF p.E318K in vulvar melanoma. This finding highlights the potential involvement of MITF p.E318K in risk assessment and clinical management of patients with vulvar melanoma. Further study of this observation is needed to inform appropriate identification of patients with non-cutaneous melanoma for MITF germline genomic evaluation and to potentially guide management for early detection of vulvar melanoma.

Alternate JournalCancer Genet
PubMed ID35220194
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