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

Autor: Koeller DR; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA., Schwartz A; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA., DeSimone MS; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Rana HQ; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA; Division of Population Sciences, Dana-Farber Cancer Institute, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA., Rojas-Rudilla V; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Russell-Goldman E; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA., Laga AC; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA., Lindeman NI; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA., Garber JE; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA; Division of Population Sciences, Dana-Farber Cancer Institute, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA., Ghazani AA; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA. Electronic address: aghazani@bwh.harvard.edu.
Jazyk: angličtina
Zdroj: Cancer genetics [Cancer Genet] 2022 Apr; Vol. 262-263, pp. 102-106. Date of Electronic Publication: 2022 Feb 15.
DOI: 10.1016/j.cancergen.2022.02.003
Abstrakt: 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.
(Copyright © 2022 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE