ArticleOrphanet journal of rare diseases2011
Genome-wide analysis of Ollier disease: Is it all in the genes?
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04134572 (Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available), which is not on this map. Cited by 18 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available
Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Replication stress causes delayed mitotic entry and chromosome 12 fragility at the ANKS1B large neuronal gene in human induced pluripotent stem cells.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023Article
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- Ollier Disease: A Case Series and Literature Review.Acta medica Lituanic · 2021Article
- FAM172A promotes follicular thyroid carcinogenesis and may be a marker of FTC.Endocrine-related cancer · 2020Article
- Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.American journal of medical genetics. Part A · 2020Article
- Integrating transcriptome-wide study and mRNA expression profiles yields novel insights into the biological mechanism of chondropathies.Arthritis research & therapy · 2019Article
- Ollier disease: two case reports and a review of the literature.American journal of translational research · 2018Article
- Radiographic features of Ollier's disease - two case reports.BMC medical imaging · 2017Article
- Exploring the key genes and pathways in enchondromas using a gene expression microarray.Oncotarget · 2017Article
- Article
- Multiple Enchondromatosis: Olliers Disease- A Case Report.Journal of clinical and diagnostic research : JCDR · 2016Article
- Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas.Virchows Archiv : an international journal of pathology · 2015Article
- Application of Machine Learning to Development of Copy Number Variation-based Prediction of Cancer Risk.Genomics insights · 2014Article
- Article
- Cartilage tumour progression is characterized by an increased expression of heparan sulphate 6O-sulphation-modifying enzymes.Virchows Archiv : an international journal of pathology · 2012Article
- Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT.Oncogene · 2012Article
- Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.Nature genetics · 2011Article
- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.Nature genetics · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOllier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetric distribution. The risk of malignant transformation towards central chondrosarcoma (CS) is increased up to 35%. The aetiology of Ollier disease is unknown.
methodsWe undertook genome-wide copy number and loss of heterozygosity (LOH) analysis using Affymetrix SNP 6.0 array on 37 tumours of 28 Ollier patients in combination with expression array using Illumina BeadArray v3.0 for 7 ECs of 6 patients.
resultsNon-recurrent EC specific copy number alterations were found at FAM86D, PRKG1 and ANKS1B. LOH with copy number loss of chromosome 6 was found in two ECs from two unrelated Ollier patients. One of these patients also had LOH at chromosome 3. However, no common genomic alterations were found for all ECs. Using an integration approach of SNP and expression array we identified loss as well as down regulation of POU5F1 and gain as well as up regulation of NIPBL. None of these candidate regions were affected in more than two Ollier patients suggesting these changes to be random secondary events in EC development. An increased number of genetic alterations and LOH were found in Ollier CS which mainly involves chromosomes 9p, 6q, 5q and 3p.
conclusionsWe present the first genome-wide analysis of the largest international series of Ollier ECs and CS reported so far and demonstrate that copy number alterations and LOH are rare and non-recurrent in Ollier ECs while secondary CS are genetically unstable. One could predict that instead small deletions, point mutations or epigenetic mechanisms play a role in the origin of ECs of Ollier disease.
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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.