論文

査読有り
2017年12月

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia

PEDIATRIC BLOOD & CANCER
  • Shinsuke Hirabayashi
  • ,
  • Masafumi Seki
  • ,
  • Daisuke Hasegawa
  • ,
  • Motohiro Kato
  • ,
  • Nobuyuki Hyakuna
  • ,
  • Takuya Shuo
  • ,
  • Shunsuke Kimura
  • ,
  • Kenichi Yoshida
  • ,
  • Keisuke Kataoka
  • ,
  • Yoichi Fujii
  • ,
  • Yuichi Shiraishi
  • ,
  • Kenichi Chiba
  • ,
  • Hiroko Tanaka
  • ,
  • Nobutaka Kiyokawa
  • ,
  • Satoru Miyano
  • ,
  • Seishi Ogawa
  • ,
  • Junko Takita
  • ,
  • Atsushi Manabe

64
12
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/pbc.26647
出版者・発行元
WILEY

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.

Web of Science ® 被引用回数 : 5

リンク情報
DOI
https://doi.org/10.1002/pbc.26647
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000413372700013&DestApp=WOS_CPL
URL
http://orcid.org/0000-0002-8263-9902

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