{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:16:07Z","timestamp":1791821767736,"version":"4.3.4"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>BAP1-Tumor Predisposition Syndrome (TPDS) is caused by germline variants in <jats:italic>BAP1<\/jats:italic> 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.<\/jats:p>","DOI":"10.1038\/s41431-024-01623-w","type":"journal-article","created":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T09:01:44Z","timestamp":1717232504000},"page":"1027-1031","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series"],"prefix":"10.1038","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1273-3108","authenticated-orcid":false,"given":"Joao","family":"Miranda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6367-2854","authenticated-orcid":false,"given":"Priya","family":"Dave","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5042-5651","authenticated-orcid":false,"given":"Yelena","family":"Kemel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania","family":"Sheikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Zong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina Posada","family":"Calderon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Will","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying L.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5006-6778","authenticated-orcid":false,"given":"Michael","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6985-2864","authenticated-orcid":false,"given":"Zsofia K.","family":"Stadler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Latham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Mandelker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Bei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela Causa","family":"Andrieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4786-7408","authenticated-orcid":false,"given":"Maria Isabel","family":"Carlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,1]]},"reference":[{"key":"1623_CR1","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1158\/2159-8290.CD-19-1220","volume":"10","author":"M Carbone","year":"2020","unstructured":"Carbone M, Harbour JW, Brugarolas J, Bononi A, Pagano I, Dey A, et al. Biological mechanisms and clinical significance of BAP1 mutations in human cancer. Cancer Discov. 2020;10:1103\u201320.","journal-title":"Cancer Discov"},{"key":"1623_CR2","unstructured":"Pilarski R, Carlo MI, Cebulla C, Abdel-Rahman M. BAP1 tumor predisposition syndrome. In: Adam MP, et al., editors. GeneReviews((R)). Seattle, WA: University of Washington,1993."},{"key":"1623_CR3","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.cell.2018.03.039","volume":"173","author":"KL Huang","year":"2018","unstructured":"Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, et al. Pathogenic germline variants in 10,389 adult cancers. Cell. 2018;173:355\u201370.e14.","journal-title":"Cell."},{"key":"1623_CR4","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1016\/j.jemermed.2008.11.019","volume":"38","author":"AP Ekeh","year":"2010","unstructured":"Ekeh AP, Walusimbi M, Brigham E, Woods RJ, McCarthy MC. The prevalence of incidental findings on abdominal computed tomography scans of trauma patients. J Emerg Med. 2010;38:484\u20139.","journal-title":"J Emerg Med."},{"key":"1623_CR5","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1177\/000313481107701141","volume":"77","author":"J Ozao-Choy","year":"2011","unstructured":"Ozao-Choy J, Kim U, Vieux U, Menes TS. Incidental findings on computed tomography scans for acute appendicitis: prevalence, costs, and outcome. Am Surg. 2011;77:1502\u20139.","journal-title":"Am Surg"},{"key":"1623_CR6","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1097\/01.ta.0000249129.63550.cc","volume":"62","author":"TR Paluska","year":"2007","unstructured":"Paluska TR, Sise MJ, Sack DI, Sise CB, Egan MC, Biondi M. Incidental CT findings in trauma patients: incidence and implications for care of the injured. J Trauma. 2007;62:157\u201361.","journal-title":"J Trauma."},{"key":"1623_CR7","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1148\/radiographics.14.2.8190956","volume":"14","author":"LS Rabushka","year":"1994","unstructured":"Rabushka LS, Kawashima A, Fishman EK. Imaging of the spleen: CT with supplemental MR examination. Radiographics. 1994;14:307\u201332.","journal-title":"Radiographics."},{"key":"1623_CR8","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1007\/s002619910040","volume":"25","author":"O Danon","year":"2000","unstructured":"Danon O, Duval-Arnould M, Osman Z, Boukobza B, Kazerouni F, Cadranel JF, et al. Hepatic and splenic involvement in cat-scratch disease: imaging features. Abdom Imaging. 2000;25:182\u20133.","journal-title":"Abdom Imaging."},{"key":"1623_CR9","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1148\/radiology.202.1.8988207","volume":"202","author":"M Ramani","year":"1997","unstructured":"Ramani M, Reinhold C, Semelka RC, Siegelman ES, Liang L, Ascher SM, et al. Splenic hemangiomas and hamartomas: MR imaging characteristics of 28 lesions. Radiology. 1997;202:166\u201372.","journal-title":"Radiology."},{"key":"1623_CR10","doi-asserted-by":"publisher","first-page":"599","DOI":"10.2214\/ajr.165.3.7645477","volume":"165","author":"MR Terk","year":"1995","unstructured":"Terk MR, Esplin J, Lee K, Magre G, Colletti PM. MR imaging of patients with type 1 Gaucher\u2019s disease: relationship between bone and visceral changes. AJR Am J Roentgenol. 1995;165:599\u2013604.","journal-title":"AJR Am J Roentgenol."},{"key":"1623_CR11","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1007\/s002770050559","volume":"78","author":"E Variami","year":"1999","unstructured":"Variami E, Terpos E, Vgenopoulou S, Kanellopoulou G, Meletis J. Inflammatory pseudotumor of the spleen: a case report and review of the literature. Ann Hematol. 1999;78:560\u20133.","journal-title":"Ann Hematol."},{"key":"1623_CR12","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/S0740-2570(03)00011-X","volume":"20","author":"JL Kutok","year":"2003","unstructured":"Kutok JL, Fletcher CD. Splenic vascular tumors. Semin Diagn Pathol. 2003;20:128\u201339.","journal-title":"Semin Diagn Pathol."},{"key":"1623_CR13","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1177\/000313480006600907","volume":"66","author":"SS Lee","year":"2000","unstructured":"Lee SS, Morgenstern L, Phillips EH, Hiatt JR, Margulies DR. Splenectomy for splenic metastases: a changing clinical spectrum. Am Surg. 2000;66:837\u201340.","journal-title":"Am Surg."},{"key":"1623_CR14","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1148\/radiographics.19.6.g99no231465","volume":"19","author":"A Paterson","year":"1999","unstructured":"Paterson A, Frush DP, Donnelly LF, Foss JN, O\u2019Hara SM, Bisset GS 3rd. A pattern-oriented approach to splenic imaging in infants and children. Radiographics. 1999;19:1465\u201385.","journal-title":"Radiographics."},{"key":"1623_CR15","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1148\/radiology.178.2.1987584","volume":"178","author":"RA Castellino","year":"1991","unstructured":"Castellino RA. The non-Hodgkin lymphomas: practical concepts for the diagnostic radiologist. Radiology. 1991;178:315\u201321.","journal-title":"Radiology."},{"key":"1623_CR16","doi-asserted-by":"publisher","first-page":"1541","DOI":"10.1126\/science.1221711","volume":"337","author":"A Dey","year":"2012","unstructured":"Dey A, Seshasayee D, Noubade R, French DM, Liu J, Chaurushiya MS, et al. Loss of the tumor suppressor BAP1 causes myeloid transformation. Science. 2012;337:1541\u20136.","journal-title":"Science."},{"key":"1623_CR17","doi-asserted-by":"publisher","first-page":"71","DOI":"10.6004\/jnccn.2022.0001","volume":"20","author":"RJ Motzer","year":"2022","unstructured":"Motzer RJ, Jonasch E, Agarwal N, Alva A, Baine M, Beckermann K, et al. Kidney cancer, version 3.2022, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2022;20:71\u201390.","journal-title":"J Natl Compr Canc Netw."},{"key":"1623_CR18","first-page":"416","volume":"41","author":"G Choi","year":"2022","unstructured":"Choi G, Kim KA, Lee J, Park YS, Lee J, Choi JW, et al. Ultrasonographic atlas of splenic lesions. Ultrasonography (Seoul, Korea). 2022;41:416\u201329.","journal-title":"Ultrasonography (Seoul, Korea)"},{"key":"1623_CR19","doi-asserted-by":"publisher","first-page":"2120","DOI":"10.3390\/diagnostics13122120","volume":"13","author":"S Gourtsoyianni","year":"2023","unstructured":"Gourtsoyianni S, Laniado M, Ros-Mendoza L, Mansueto G, Zamboni GA. The spectrum of solitary benign splenic lesions-imaging clues for a noninvasive diagnosis. Diagnostics (Basel, Switz). 2023;13:2120.","journal-title":"Diagnostics (Basel, Switz)"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01623-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01623-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01623-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T19:08:22Z","timestamp":1722452902000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01623-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,1]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["1623"],"URL":"https:\/\/doi.org\/10.1038\/s41431-024-01623-w","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,1]]},"assertion":[{"value":"23 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 April 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"YLL reports research funding from AstraZeneca, GSK and Repare Therapeutics unrelated to this work. ZKS\u2019s immediate family member serves as a consultant in Ophthalmology for Adverum, Genentech, Neurogene, Novartis, Optos Plc, Outlook Therapeutics, and Regeneron outside the submitted work. Dr. Stadler serves as an Associate Editor for JCO Precision Oncology and as a Section Editor for UpToDate. MIC reports honoraria from OncLive. All other authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study was approved by the Memorial Sloan Kettering Cancer Center Institutional Review Board (IRB).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}