Title

Histologically diverse BAP1-Deficient melanocytic tumors in a patient with BAP1 tumor predisposition syndrome

Document Type

Journal Article

Publication Title

The American Journal of Dermatopathology

Volume

42

Issue

11

First Page

872

Last Page

875

Publisher

Wolters Kluwer

School

School of Medical and Health Sciences

Comments

Louw, A., Creaney, J., Thomas, A., Van Vliet, C., Harvey, N. T., Wood, B. A., & Ardakani, N. M. (2020). Histologically diverse BAP1-Deficient melanocytic tumors in a patient with BAP1 tumor predisposition syndrome. The American Journal of Dermatopathology, 42(11), 872-875. https://doi.org/10.1097/DAD.0000000000001719

Abstract

BRCA1-associated protein-1 (BAP1)-deficient cutaneous tumors are common in patients with BAP1 tumor predisposition syndrome, frequently presenting before other associated neoplasms, and can serve as an early marker to identify individuals with this disease. The typical lesions are dermal based and composed of a combination of larger epithelioid melanocytes with abundant glassy cytoplasm and smaller cells resembling those of a conventional nevus. There is often a component of interspersed lymphocytes. However, BAP1-deficient melanocytic tumors can show a spectrum of histologic appearances, ranging from lesions with pure epithelioid, pure conventional nevus, or rhabdoid cells and tumors with an intraepidermal component. To demonstrate such morphologic variation, we present a case of a 50-year-old woman with multiple histologically diverse BAP1-deficient melanocytic tumors and germline BAP1 mutation, identified after a diagnosis of pleural mesothelioma. We also discuss the pathogenesis and potential histopathological and clinical indications of germline versus sporadic etiology in the assessment of BAP1-deficient melanocytic tumors.

DOI

10.1097/DAD.0000000000001719

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