{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:04:23Z","timestamp":1753869863924,"version":"3.41.2"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,9,17]],"date-time":"2017-09-17T00:00:00Z","timestamp":1505606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["15ek0109099h001"],"award-info":[{"award-number":["15ek0109099h001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Donor cell leukemia (DCL) occurs after allogeneic hematopoietic stem cell transplantation. Several mechanisms, including occult leukemic\/preleukemic subclones in the donor graft and germline predisposition to leukemia, are proposed to be associated with DCL's molecular pathogenesis. We report a comprehensive genetic analysis of a patient with <jats:italic>KMT2A<\/jats:italic>\u2010rearranged DCL after allogeneic bone marrow transplantation for refractory cytopenia of childhood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>We performed a whole\u2010exome sequencing of the recipient's peripheral blood before transplant and the donor's peripheral blood and the recipient's bone marrow at the time of DCL diagnosis. RNA sequencing was also performed to detect fusion genes in DCL blasts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There were no germline mutations that were associated with a predisposition to leukemia in the recipient and donor. Furthermore, there were no detectable somatic alterations except <jats:italic>KMT2A<\/jats:italic>\u2010<jats:italic>MLLT10<\/jats:italic> and other related gene fusions in DCL. <jats:italic>KMT2A<\/jats:italic>\u2010<jats:italic>MLLT10<\/jats:italic> was not detectable in the donor's bone marrow.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We propose a novel pattern of the molecular pathogenesis of DCL solely involving a genetic mutation acquired after transplant with no identifiable genetic factor related to the donor and recipient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.26823","type":"journal-article","created":{"date-parts":[[2017,9,18]],"date-time":"2017-09-18T14:27:03Z","timestamp":1505744823000},"source":"Crossref","is-referenced-by-count":5,"title":["Comprehensive genetic analysis of donor cell derived leukemia with <i>KMT2A<\/i> rearrangement"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6735-0214","authenticated-orcid":false,"given":"Rieko","family":"Taniguchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Nagoya University Graduate School of Medicine  Nagoya Japan"},{"name":"Department of Hematology and Oncology Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Muramatsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Okuno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagoya University Graduate School of Medicine  Nagoya Japan"},{"name":"Center for Advanced Medicine and Clinical Research Nagoya University Hospital  Nagoya 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