Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors

Journal of the American Academy of Dermatology
Erin M GarfieldPedram Gerami

Abstract

BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) are often the earliest sign of the BAP1 tumor predisposition syndrome. Identification of BIMTs and selection of patients for germline testing affect the lives of patients with germline BAP1 mutations. To describe the spectrum of histomorphologic findings in BAP1-inactivated melanocytic lesions to improve their recognition. We determined the frequency of sporadic versus germline cases in our cohort, assessing whether any features were statistically linked to germline status. Histomorphologic features of BAP1-inactivated melanocytic lesions were analyzed by comparing cases with germline mutations with those with unknown or negative status. Available clinical follow-up data were reported. The histomorphologic spectrum of BAP1-inactivated melanocytic lesions is broad; it includes cases with spitzoid cytomorphology (69%), smaller epithelioid cells without spitzoid features (31%), and rhabdoid cytologic features (58%). BIMTs from patients with germline mutations were statistically more likely to have an extensive junctional component of BAP1-inactivated melanocytes (P = .0177). All 11 patients with suspected or confirmed germline mutations had a history of cutan...Continue Reading

Citations

Feb 26, 2020·Journal of Cutaneous Pathology·Lyn M Duncan, Michael T Tetzlaff
May 21, 2020·International Journal of Molecular Sciences·Kevin YangAndrzej T Slominski
Jan 31, 2020·The American Journal of Dermatopathology·Marianne Kolbach-RengifoSergio González-Bombardiere
Jun 10, 2020·Journal of Clinical Pathology·Shoko VosLodewijk A A Brosens
Jun 8, 2019·Molecular Medicine Reports·Jia ChenYeqiang Liu
Apr 7, 2020·Journal of Cutaneous Pathology·Atrin ToussiMaija Kiuru
Aug 10, 2020·The American Journal of Dermatopathology·Michele DonatiDmitry V Kazakov
Sep 3, 2020·Cancer Treatment Reviews·Bryan H Louie, Razelle Kurzrock
Dec 4, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Michele DonatiDmitry V Kazakov

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