ArticleNature genetics2011
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 234 papers, 2 of them syntheses that pooled it.
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234 citing papers in PubMed, 2 syntheses or guidelines pooled it, 547 citations in OpenAlex.
- Integrative DNA methylation and gene expression analysis to assess the universality of the CpG island methylator phenotype.Human genomics · 2015Pooled it
- Characterization of large structural genetic mosaicism in human autosomes.American journal of human genetics · 2015Pooled it
- Olutasidenib in recurrent/relapsed locally advanced or metastatic IDH1-mutated chondrosarcoma: phase 1b/2 trial.Nature communications · 2026Trial
- Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.Genome medicine · 2016Trial
- Synchronous diagnosis of multicentric glioma with distinct isocitrate dehydrogenase molecular profiles: a case report.CNS oncology · 2026Article
- Accurate Prediction of Central Conventional Chondrosarcoma Risk and Outcome Using Methylation Profiling: CHROME.Genes, chromosomes & cancer · 2026Article
- Dedifferentiated Chondrosarcoma: Current Advances and Future Perspectives.Current treatment options in oncology · 2026Review
- Prognostic Role of TERT Mutations in Chondrosarcoma: Associations with Dedifferentiation, Survival, and IDH/TERT Co-Mutations.Cancers · 2026Article
- Targeted therapy in recurrent clival chordoma: a case report of response to ivosidenib.The oncologist · 2026Article
- Defining the Vascular Anomalies in Maffucci Syndrome: A Systematic Review.Plastic and reconstructive surgery. Global open · 2026Article
- Review
- The metabolic profiles of cancer stem cells.Stem cell research & therapy · 2026Review
- IDH1 Mutant Glioma Favors Group 3 Innate Lymphoid Cells and Is Resistant to Immune Checkpoint Expression.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Seizure Presentation of a Grade II Astrocytoma in a Patient With Ollier's Disease: A Case Report and Brief Review.Cureus · 2026Article
- Diffuse Intraductal Breast Papillomatosis in a 34-Year-Old Female With Maffucci Syndrome: A Case Report.Case reports in radiology · 2026Article
- Loss of IDH1 and IDH2 mutations during the evolution of metastatic chondrosarcoma.Genome biology · 2025Article
- Enchondromatosis of Both Hands With Possible Skull Bone Involvement: An Extremely Rare Condition in Adults.Cureus · 2025Review
- BCOR-Mutated Conventional and Dedifferentiated Chondrosarcoma: A Clinicopathologic Study.Genes, chromosomes & cancer · 2025Article
- Pituitary Complications of Enchondromas Due to Maffucci Syndrome.JCEM case reports · 2025Article
- Misdiagnosis of chordoma: A case report and a review of the literature.Oncology letters · 2025Article
174 more citing papers are in PubMed but not listed here.
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27 authors at 14 institutions in 10 countries.
Funding
Abstract
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.
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