Journal article
Histologically diverse BAP1-Deficient melanocytic tumors in a patient with BAP1 Tumor predisposition syndrome
The American Journal of Dermatopathology, Vol.42(11), pp.872-875
2020
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.
Details
- Title
- Histologically diverse BAP1-Deficient melanocytic tumors in a patient with BAP1 Tumor predisposition syndrome
- Authors/Creators
- A. Louw (Author/Creator)J. Creaney (Author/Creator)A. Thomas (Author/Creator)C. Van Vliet (Author/Creator)N.T. Harvey (Author/Creator)B.A. Wood (Author/Creator)N. Mesbah Ardakani (Author/Creator)
- Publication Details
- The American Journal of Dermatopathology, Vol.42(11), pp.872-875
- Publisher
- Wolters Kluwer
- Identifiers
- 991005541590607891
- Copyright
- © 2020 Wolters Kluwer Health
- Murdoch Affiliation
- College of Science, Health, Engineering and Education
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.297 Asbestos & Mesothelioma
- 1.297.780 Asbestos-Mesothelioma Link
- Web Of Science research areas
- Dermatology
- ESI research areas
- Clinical Medicine