Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series.

BAP1-Tumor Predisposition Syndrome (TPDS) is caused by germline variants in BAP1 and predisposes to solid tumors. After observation of a radiologically malignant-appearing splenic mass with benign pathology in a patient with BAP1-TPDS, we sought to retrospectively characterize splenic lesions in individuals with BAP1-TPDS seen at a comprehensive cancer center. A dedicated radiology review for splenic abnormalities was performed. We identified 37 individuals with BAP1-TPDS, 81% with a history of cancer. Of 33 individuals with abdominal imaging, 10 (30%) had splenic lesions, and none were shown to be malignant on follow-up. Splenectomy in an individual with suspected splenic angiosarcoma showed a benign vascular neoplasm with loss of nuclear staining for BAP1 in a subset of cells. Benign splenic lesions appear to be common and potentially BAP1-driven in individuals with BAP1-TPDS; confirmation of these findings could lead to more conservative management and avoidance of splenectomy. © 2024. The Author(s).

Citation

Joao Miranda, Priya Dave, Yelena Kemel, Rania Sheikh, Grace Zong, Lina Posada Calderon, Marie Will, Ying L Liu, Michael Walsh, Zsofia K Stadler, Kenneth Offit, Alicia Latham, Diana Mandelker, Ying-Bei Chen, Pamela Causa Andrieu, Maria Isabel Carlo. Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series. European journal of human genetics : EJHG. 2024 Aug;32(8):1027-1031

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PMID: 38824259

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