{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:54Z","timestamp":1747146114936,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T00:00:00Z","timestamp":1552348800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Overgrowth syndromes are rare genetic conditions which present as global or segmental hyperplasia and are sometimes associated with increased risk of malignancy. Trisomy of the terminal portion of 15q which includes the <jats:italic>IGFR1<\/jats:italic> gene, produces a rare overgrowth phenotype that has been termed 15q overgrowth syndrome (15q OGS). Upregulation of <jats:italic>IGF1R<\/jats:italic> has long been implicated in oncogenesis of multiple cancer types, including acute leukemias, and has been shown to render cells more susceptible to other transforming events. To date, too few cases of 15q OGS have been reported to identify any cancer predisposition. We present a case of a 34\u2010year\u2010old female with intellectual disability, macrocephaly, and subtle dysmorphic features who was diagnosed with mixed phenotype acute leukemia (lymphoid and myeloid). Prior to initiation of therapy she was referred to medical genetics for further evaluation and was identified as having a chromosomal translocation resulting in a partial trisomy of chromosome 15q, consistent with 15q OGS. A review of the literature for cases of malignancy in individuals with increased copy number of 15q revealed only one other reported patient. Given the small number of reported individuals, we cannot rule out an increased risk of cancer associated with this chromosomal overgrowth syndrome. Although concerns have been raised regarding treatment feasibility in the setting of chromosomal disorders, the reported patient underwent successful treatment with allogeneic hematopoietic stem\u2010cell transplant.<\/jats:p>","DOI":"10.1002\/ajmg.a.61115","type":"journal-article","created":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T19:54:50Z","timestamp":1552420490000},"page":"1025-1029","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Acute leukemia in a patient with 15q overgrowth syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6339-1753","authenticated-orcid":false,"given":"Ethan E.","family":"Bodle","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Stanford University  Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ridhi","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Blood and Marrow Transplantation, Department of Medicine Stanford University  Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athena M.","family":"Cherry","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lori","family":"Muffly","sequence":"additional","affiliation":[{"name":"Division of Blood and Marrow Transplantation, Department of Medicine Stanford University  Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie A.","family":"Manning","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Stanford University  Stanford California"},{"name":"Department of Pathology Stanford University  Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.08.006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.28727"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31363"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/338934"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703321"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25245"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.3727\/096504010X12828372551821"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24918"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2013.02.017"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10708"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.10.2.464"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.03.005"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36836"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2011.54.6.267"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2015.75"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30300"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-005-0031-y"},{"volume-title":"GeneReviews\u00ae","year":"2007","author":"Rauen K. A.","key":"e_1_2_6_19_1"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19911015)68:8<1673::AID-CNCR2820680802>3.0.CO;2-0"},{"issue":"3","key":"e_1_2_6_21_1","first-page":"533","article-title":"Bone marrow transplantation for the treatment of haematological disorders in Down's syndrome: Toxicity and outcome","volume":"18","author":"Rubin C. M.","year":"1996","journal-title":"Bone Marrow Transplantation"},{"volume-title":"GeneReviews\u00ae","year":"2006","author":"Sajorda B. J.","key":"e_1_2_6_22_1"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-2283"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2006.00908.x"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32534"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.247"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1597"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.3892\/or.2015.3762"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-012-1234-3"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-09-2232"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61115","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61115","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61115","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T21:58:06Z","timestamp":1694296686000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,12]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1002\/ajmg.a.61115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61115","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,3,12]]},"assertion":[{"value":"2018-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}