{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:34Z","timestamp":1753861774686,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:00:00Z","timestamp":1708992000000},"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":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Li\u2013Fraumeni syndrome (LFS) is a rare syndrome characterized by an increased lifetime risk of cancer development in multiple organ systems, typically caused by de novo or inherited germline pathogenic variants in the tumor suppressor <jats:italic>TP53<\/jats:italic> gene. LFS is more classically associated with solid tumors; however, it is also associated with hematologic malignancies such as therapy\u2010related acute myeloid leukemia (AML). We present the case of a female patient with a strong family and personal history of cancer who presented to our institution with therapy\u2010related AML with next\u2010generation sequencing showing a pathogenic <jats:italic>TP53<\/jats:italic> mutation. She received several lines of systemic therapy and underwent stem cell transplant using her adult daughter as a haploidentical donor after achieving minimal residual disease (MRD). Her posttransplant bone marrow evaluations demonstrated persistence of the same pathogenic <jats:italic>TP53<\/jats:italic> mutation despite ongoing clinical remission with full donor engraftment and negative MRD. Genetic testing was performed which confirmed the germline origin of the <jats:italic>TP53<\/jats:italic> pathogenic variant in the patient. The patient's adult donor daughter was also identified to have the same pathogenic variant in <jats:italic>TP53<\/jats:italic> consistent with LFS. The presented case highlights the need for increased awareness of LFS in the adult hematologic community, particularly for patients undergoing evaluation for stem cell transplant.<\/jats:p>","DOI":"10.1002\/ajmg.a.63573","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T09:00:08Z","timestamp":1709024408000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hematologic malignancies in <scp>Li\u2013Fraumeni<\/scp> syndrome: A case report"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5693-0963","authenticated-orcid":false,"given":"Bethany","family":"Bundrant","sequence":"first","affiliation":[{"name":"Internal Medicine Department Baylor College of Medicine  Houston Texas USA"},{"name":"Division of Internal Medicine The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoheved","family":"Gerstein","sequence":"additional","affiliation":[{"name":"Clinical Cancer Genetics Program The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Banu","family":"Arun","sequence":"additional","affiliation":[{"name":"Department of Breast Medical Oncology, Division of Cancer Medicine The University of Texas MD Anderson Cancer Center  Houston Texas USA"},{"name":"Department of Clinical Cancer Prevention, Division of OVP, Cancer Prevention, and Population Sciences The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtney D.","family":"DiNardo","sequence":"additional","affiliation":[{"name":"Department of Leukemia, Division of Cancer Medicine The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.59.5728"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a026286"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminoncol.2008.04.012"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058958"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-010-9368-z"},{"key":"e_1_2_8_7_1","first-page":"5358","article-title":"A cancer family syndrome in twenty\u2010four kindreds","volume":"48","author":"Li F.","year":"1988","journal-title":"Cancer Research"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2014.41"},{"key":"e_1_2_8_9_1","unstructured":"NCCN. (2023 August 28).Genetic\/familial high\u2010risk assessment: breast ovarian and pancreatic. Retrieved from NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines Version 1.2024)."},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20495"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104976"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073429"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2019","author":"Schneider K.","key":"e_1_2_8_13_1"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-013-0020-0"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a003210"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.22.7967"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(16)30249-2"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T15:29:18Z","timestamp":1717774158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,27]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/ajmg.a.63573"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63573","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,2,27]]},"assertion":[{"value":"2023-11-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63573"}}