{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T19:02:35Z","timestamp":1781031755499,"version":"3.54.1"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T00:00:00Z","timestamp":1691366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rhabdoid Tumor Predisposition Syndrome 1 (RTPS1) confers an increased risk of developing rhabdoid tumors and is caused by germline mutations in <jats:italic>SMARCB1<\/jats:italic>. RTPS1 should be evaluated in all individuals with rhabdoid tumor and is more likely in those with a young age at presentation (occasionally congenital presentation), multiple primary tumors, or a family history of rhabdoid tumor or RTPS1. Proband genetic testing is the standard method for diagnosing RTPS1. Most known RTPS1\u2010related <jats:italic>SMARCB1<\/jats:italic> gene mutations are copy number variants (CNVs) or single nucleotide variants\/indels, but structural variant analysis (SVA) is not usually included in the molecular evaluation. Here, we report two children with RTPS1 presenting with atypical teratoid\/rhabdoid tumor (ATRT) who had constitutional testing showing balanced chromosome translocations involving <jats:italic>SMARCB1<\/jats:italic>. Patient 1 is a 23\u2010year\u2010old female diagnosed with pineal region ATRT at 7\u2009months who was found to have a <jats:italic>de novo<\/jats:italic>, constitutional t(16;22)(p13.3;q11.2). Patient 2 is a 24\u2010month\u2010old male diagnosed with a posterior fossa ATRT at 14\u2009months, with subsequent testing showing a constitutional t(5;22)(q14.1;q11.23). These structural rearrangements have not been previously reported in RTPS1. While rare, these cases suggest that structural variants should be considered in the evaluation of children with rhabdoid tumors to provide more accurate genetic counseling on the risks of developing tumors, the need for surveillance, and the risks of passing the disorder on to future children. Further research is needed to understand the prevalence, clinical features, and tumor risks associated with RTPS1\u2010related constitutional balanced translocations.<\/jats:p>","DOI":"10.1002\/gcc.23195","type":"journal-article","created":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T10:07:30Z","timestamp":1691402850000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Constitutional balanced translocations involving <scp><i>SMARCB1<\/i><\/scp>: A rare cause of rhabdoid tumor predisposition syndrome"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0658-1275","authenticated-orcid":false,"given":"Patrick R.","family":"Blackburn","sequence":"first","affiliation":[{"name":"Department of Pathology St Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7392-6515","authenticated-orcid":false,"given":"Rose B.","family":"McGee","sequence":"additional","affiliation":[{"name":"Division of Cancer Predisposition St Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roya","family":"Mostafavi","sequence":"additional","affiliation":[{"name":"Division of Cancer Predisposition St Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Carroll","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fady M.","family":"Mikhail","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory T.","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Cancer Control St. Jude Children's Research Hospital  Memphis Tennessee USA"},{"name":"Department of Oncology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa V.","family":"Furtado","sequence":"additional","affiliation":[{"name":"Department of Pathology St Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Pathology St Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Department of Computational Biology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Hospitalist Medicine St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim E.","family":"Nichols","sequence":"additional","affiliation":[{"name":"Division of Cancer Predisposition St Jude Children's Research Hospital  Memphis Tennessee USA"},{"name":"Department of Oncology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6101-149X","authenticated-orcid":false,"given":"Santhosh A.","family":"Upadhyaya","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Research Hospital  Memphis Tennessee USA"},{"name":"Department of Pediatrics University of Tennessee Health Science Center  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-021-00229-1"},{"key":"e_1_2_7_3_1","volume-title":"GeneReviews\u00ae","author":"Nemes K","year":"1993"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0143-1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22831"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31410"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2014.08.002"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199802)21:2<82::AID-GCC2>3.0.CO;2-3"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(91)90359-3"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0191-y"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870100108"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870050203"},{"issue":"7","key":"e_1_2_7_13_1","first-page":"2177","article-title":"Establishment and characterization of a cell line (Wa\u20102) derived from an extrarenal rhabdoid tumor","volume":"50","author":"Handgretinger R","year":"1990","journal-title":"Cancer Res"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199606)16:2<94::AID-GCC3>3.0.CO;2-Y"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(97)00225-2"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06485-7"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-020-02043-x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-20-4731"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.634217"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-199809000-00007"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.pas.0000213329.71745.ef"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.10.013"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noz235"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.3171\/foc.2006.20.1.12"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noz244"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-10-1795"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1323-x"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20622"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6604156"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/302639"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22757"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-015-9836-6"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0386-3"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33119"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.79"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22954"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.5755"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.23195","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T15:10:38Z","timestamp":1705590638000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.23195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,7]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/gcc.23195"],"URL":"https:\/\/doi.org\/10.1002\/gcc.23195","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,7]]},"assertion":[{"value":"2023-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e23195"}}