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Article

Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.

Journal of neurosurgery - 1 Jun 2016

Hao Shuyu, Hong Christopher S, Feng Jie, Yang Chunzhang, Chittiboina Prashant, Zhang Junting, Zhuang Zhengping

Abstract excerpt

Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffucci syndrome who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26473790
DOI: 10.3171/2015.4.JNS15191
PMCID: PMC5121660

Genes

IDH1
IDH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.PMID 26473790Read ↗

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Maffucci syndrome and neoplasms: a case report and review of the literature.Semantic proximity Read ↗

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

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