ArticleNature genetics2011
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
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 178 papers, 5 of them syntheses that pooled it.
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Who cites it
178 citing papers in PubMed, 5 syntheses or guidelines pooled it, 429 citations in OpenAlex.
- Chronic pain and fatigue in multiple osteochondroma and Ollier disease, a systematic review.BMC musculoskeletal disorders · 2026Pooled it
- Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature.Orphanet journal of rare diseases · 2021Pooled it
- 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
- Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2.Nature communications · 2013Pooled it
- Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.Genome medicine · 2016Trial
- Severe Deforming Ollier Disease with a Giant Proximal Humeral Benign Chondroid Lesion in an Adolescent Male: Case Report.Journal of orthopaedic case reports · 2026Article
- Defining the Vascular Anomalies in Maffucci Syndrome: A Systematic Review.Plastic and reconstructive surgery. Global open · 2026Article
- A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coincidence or expanding the spectrum of Ollier disease?JBMR plus · 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
- Pituitary Complications of Enchondromas Due to Maffucci Syndrome.JCEM case reports · 2025Article
- Article
- Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.Neuro-oncology · 2025Article
- Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.Journal of orthopaedic case reports · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- How do lesions affect limb lengthening in children with Ollier's disease?BMC musculoskeletal disorders · 2025Article
- (B)On(e)-cohistones and the epigenetic alterations at the root of bone cancer.Cell death and differentiation · 2025Review
118 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. In 18 of 19 individuals with more than one tumor analyzed, all tumors from a given individual shared the same IDH1 mutation affecting Arg132. In 2 of 12 subjects, a low level of mutated DNA was identified in non-neoplastic tissue. The levels of the metabolite 2HG were measured in a series of central cartilaginous and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated strongly with the presence of IDH1 mutations. The findings are compatible with a model in which IDH1 or IDH2 mutations represent early post-zygotic occurrences in individuals with these syndromes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.