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Article

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

World journal of surgical oncology - 29 Jun 2022

Lv Haiyan, Jiang Hantao, Zhang Minge, Luo Huarong, Hong Zhenghua, Yang Hai, Xu Weiming, Shen Bo, Zhang Wei, Qiu Hao, Zhu Rangteng

Abstract excerpt

BACKGROUND: Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment. CASE PRESENTATION: We present a case of a 45-year-old man with MS to supplement the...

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Identifiers

PMID: 35765075
DOI: 10.1186/s12957-022-02686-z
PMCID: PMC9241289

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Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.PMID 35765075Read ↗

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

IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.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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Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.Semantic proximity Read ↗

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

An intermediate phenotype in IDH related enchondromatosis spectrum.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 ↗

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Multiple osteochondromas.Semantic proximity Read ↗

Genomic Profiling of Low-grade Intramedullary Cartilage Tumors Can Distinguish Enchondroma From Chondrosarcoma.Semantic proximity Read ↗

<scp>IDH</scp>2 and <scp>TP</scp>53 mutations are correlated with gliomagenesis in a patient with Maffucci syndromeSemantic proximity Read ↗

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