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Article

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

International journal of hematology - 1 Dec 2015

Akiyama Masaharu, Yamaoka Masayoshi, Mikami-Terao Yoko, Ohyama Wataru, Yokoi Kentaro, Arakawa Yasuhiro, Takita Junko, Suzuki Hideaki, Yamada Hisashi

Abstract excerpt

Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the...

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Source

Identifiers

PMID: 26508204
DOI: 10.1007/s12185-015-1892-z

Genes

IDH1
NPM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome.PMID 26508204Read ↗

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Common Somatic Alterations Identified in Maffucci Syndrome by Molecular KaryotypingSemantic proximity Read ↗

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

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

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

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

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

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