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Article

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

Cold Spring Harbor molecular case studies - 1 Dec 2021

Brown Natasha J, Ye Zimeng, Stutterd Chloe, Jayasinghe Sureshni I, Schneider Amy, Mullen Saul, Mandelstam Simone A, Hildebrand Michael S

Abstract excerpt

Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported;...

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PMID: 34588213
DOI: 10.1101/mcs.a006127
PMCID: PMC8751415

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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.

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Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.PMID 34588213Read ↗

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