{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T08:06:58Z","timestamp":1777536418976,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,5,24]],"date-time":"2017-05-24T00:00:00Z","timestamp":1495584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (<jats:italic>IDH1<\/jats:italic> or <jats:italic>IDH2<\/jats:italic>) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15\u2010year\u2010old female with Maffucci syndrome developed B\u2010cell precursor acute lymphoblastic leukemia (BCP\u2010ALL). A somatic mutation in <jats:italic>IDH1<\/jats:italic> was detected in hemangioma and leukemic cells. <jats:italic>KRAS<\/jats:italic> mutation and deletion of <jats:italic>IKZF1<\/jats:italic> were detected in leukemic cells. Patients with Maffucci syndrome may, therefore, be at risk of BCP\u2010ALL associated with secondary genetic events that affect lymphocyte differentiation.<\/jats:p>","DOI":"10.1002\/pbc.26647","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T16:52:05Z","timestamp":1495731125000},"source":"Crossref","is-referenced-by-count":10,"title":["Constitutional abnormalities of <i>IDH1<\/i> combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7961-0968","authenticated-orcid":false,"given":"Shinsuke","family":"Hirabayashi","sequence":"first","affiliation":[{"name":"Department of Pediatrics St. Luke's International Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Seki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tokyo  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