@article{9b0f09c9a8474c8591375f22abdb8673,
title = "Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia",
abstract = "Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) 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-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. KRAS mutation and deletion of IKZF1 were detected in leukemic cells. Patients with Maffucci syndrome may, therefore, be at risk of BCP-ALL associated with secondary genetic events that affect lymphocyte differentiation.",
keywords = "IDH1, IKZF1, KRAS, Maffucci syndrome, acute lymphoblastic leukemia",
author = "Shinsuke Hirabayashi and Masafumi Seki and Daisuke Hasegawa and Motohiro Kato and Nobuyuki Hyakuna and Takuya Shuo and Shunsuke Kimura and Kenichi Yoshida and Keisuke Kataoka and Yoichi Fujii and Yuichi Shiraishi and Kenichi Chiba and Hiroko Tanaka and Nobutaka Kiyokawa and Satoru Miyano and Seishi Ogawa and Junko Takita and Atsushi Manabe",
note = "Funding Information: The authors declare that there is no conflict of interest. S.H., M.S., M.K., and A.M. designed the study. S.H., D.H., N.H., and A.M. provided medical care to the patients and collected data. S.H., M.S., M.K., T.S., S.K., K.Y., K.K., Y.F., Y.S., K.C., H.T., N.K., S.M., S.O., and J.T. analyzed the data. S.H., M.S., D.H., and A.M. wrote the paper. All authors discussed the result and commented on the manuscript. This work was supported by the Japan Society for the Promotion of Science (JSPS) through Grants-in-Aid for Scientific Research (KAKENHI) with grant number 16K21376. Funding Information: This work was supported by the Japan Society for the Promotion of Science (JSPS) through Grants-in-Aid for Scientific Research (KAK-ENHI) with grant number 16K21376. Publisher Copyright: {\textcopyright} 2017 Wiley Periodicals, Inc.",
year = "2017",
month = dec,
doi = "10.1002/pbc.26647",
language = "English",
volume = "64",
journal = "Medical and Pediatric Oncology",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "12",
}