ArticleWorld journal of surgical oncology2022
Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.
Article in World journal of surgical oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 4 citations in OpenAlex.
- Defining the Vascular Anomalies in Maffucci Syndrome: A Systematic Review.Plastic and reconstructive surgery. Global open · 2026Article
- Genetic and Functional Changes in Mitochondria in the Pituitary Adenoma: The Pathogenesis and Its Therapy.Antioxidants (Basel, Switzerland) · 2024Review
- A rare presentation of Maffucci syndrome: A case report and literature review.Experimental and therapeutic medicine · 2023Article
- Disastrous evolution of ollier disease: a rare case report.Annals of medicine and surgery (2012) · 2023Article
- Vascular Tumors Unraveling a Rare Genetic Disorder.Indian dermatology online journalArticle
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11 authors at 2 institutions in 1 country.
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Abstract
backgroundMaffucci 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 clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA.
conclusionsThis case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.
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