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
Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Department of Urology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA.
Eur J Hum Genet. 2024 Aug;32(8):1027-1031. doi: 10.1038/s41431-024-01623-w. Epub 2024 Jun 1.
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.
BAP1肿瘤易感性综合征（TPDS）由BAP1基因种系变异引起，易患实体瘤。在观察到一名BAP1-TPDS患者出现放射学上表现为恶性的脾脏肿块但病理为良性后，我们试图回顾性地描述在一家综合癌症中心就诊的BAP1-TPDS个体的脾脏病变情况。针对脾脏异常进行了专门的放射学检查。我们确定了37例BAP1-TPDS患者，其中81%有癌症病史。在33例进行腹部影像学检查的患者中，10例（30%）有脾脏病变，随访中均未显示为恶性。对一名疑似脾脏血管肉瘤的个体进行脾切除术后发现，其为良性血管肿瘤，部分细胞中BAP1核染色缺失。在BAP1-TPDS个体中，良性脾脏病变似乎很常见，且可能由BAP1驱动；这些发现的证实可能会导致更保守的治疗并避免脾切除术。
