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

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

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

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.

Original languageEnglish
Article numbere26647
JournalPediatric Blood and Cancer
Volume64
Issue number12
DOIs
Publication statusPublished - 2017 Dec
Externally publishedYes

Keywords

  • IDH1
  • IKZF1
  • KRAS
  • Maffucci syndrome
  • acute lymphoblastic leukemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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