Synapse - Benign splenic lesions in BAP1-tumor predisposition syndrome: A case series

Benign splenic lesions in BAP1-tumor predisposition syndrome: A case series Journal Article

Authors:	Miranda, J.; Dave, P.; Kemel, Y.; Sheikh, R.; Zong, G.; Calderon, L. P.; Will, M.; Liu, Y. L.; Walsh, M.; Stadler, Z. K.; Offit, K.; Latham, A.; Mandelker, D.; Chen, Y. B.; Andrieu, P. C.; Carlo, M. I.
Article Title:	Benign splenic lesions in BAP1-tumor predisposition syndrome: A case series
Abstract:	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. © The Author(s) 2024.
Keywords:	immunohistochemistry; adult; clinical article; aged; middle aged; cancer surgery; human cell; genetics; splenectomy; case report; nuclear magnetic resonance imaging; follow up; clinical practice; metabolism; gene; genetic predisposition to disease; prevalence; pathology; angiosarcoma; retrospective study; electronic medical record; syndrome; conservative treatment; contrast enhancement; tumor suppressor proteins; tumor suppressor protein; genetic predisposition; germ-line mutation; hemangioma; hamartoma; spleen tumor; splenic neoplasms; ubiquitin thiolesterase; cyst; lymphangioma; neoplastic syndromes, hereditary; fine needle aspiration biopsy; germline mutation; bap1 gene; humans; human; male; female; article; hereditary tumor syndrome; x-ray computed tomography; positron emission tomography-computed tomography; epithelioid histiocyte; bap1 protein, human; bap1 tumor predisposition syndrome; benign vascular tumor; littoral cell angioma
Journal Title:	European Journal of Human Genetics
Volume:	32
Issue:	8
ISSN:	1018-4813
Publisher:	Nature Publishing Group
Date Published:	2024-08-01
Start Page:	1027
End Page:	1031
Language:	English
DOI:	10.1038/s41431-024-01623-w
PUBMED:	38824259
PROVIDER:	scopus
PMCID:	PMC11291683
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85194887394&doi=10.1038%2fs41431-024-01623-w&partnerID=40&md5=318cace40d002a6b67960f8584828a1a
Notes:	Article -- MSK Cancer Center Support Grant (P30 CA008748) acknowledged in PDF; MSK corresponding author is Maria Isabel Carlo -- Source: Scopus