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