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Article

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

Pediatric blood & cancer - 1 Dec 2017

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28544751
DOI: 10.1002/pbc.26647

Genes

IDH1
IDH2
IKZF1
KRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.PMID 28544751Read ↗

Maffucci Syndrome Complicated by Giant Chondrosarcoma in the Left Ankle with an IDH1 R132C Mutation: Case ReportSemantic proximity Read ↗

Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome.Semantic proximity Read ↗

IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.Semantic proximity Read ↗

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.Semantic proximity Read ↗

Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.Semantic proximity Read ↗

An intermediate phenotype in IDH related enchondromatosis spectrum.Semantic proximity Read ↗

A case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1.Semantic proximity Read ↗

A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.Semantic proximity Read ↗

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndromeSemantic proximity Read ↗

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2Semantic proximity Read ↗

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.Semantic proximity Read ↗

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