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| Status |
Public on Nov 05, 2011 |
| Title |
Examination of Ollier Disease and Maffucci Syndrome using IDH Tiling Array |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier) combined with spindle cell hemangiomas (Maffucci). We found somatic heterozygous IDH1 mutations (R132C and R132H) in 83% of enchondromas, benign cartilage tumors, as well as in 40% of spindle cell hemangiomas, benign vascular lesions. In total, 33 of 42 (78%) patients with Ollier disease and 7 of 13 (54%) patients with Maffucci syndrome carried a mutation in at least one of their tumors. Twelve patients with multiple tumors at different locations displayed identical mutations in separate lesions. Immunohistochemical staining for the R132H IDH1 mutant protein suggested intraneoplastic as well as somatic mosaicism. IDH1 mutations were less frequent (63%) in high grade malignant cartilage tumors in Ollier disease, suggesting that IDH1 is less important for malignant transformation. IDH1 and IDH2 mutations were found in 36% of sporadic cartilage tumors and in four cell lines derived from sporadic chondrosarcomas.
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| Overall design |
16 samples were analyzed in two color experiment, using normal male or female as a reference sample (gender mismatched)
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| Contributor(s) |
Pansuriya T |
| Citation(s) |
22057234 |
| |
| Submission date |
Jul 01, 2011 |
| Last update date |
Jan 17, 2013 |
| Contact name |
Twinkal Chandubhai Pansuriya |
| E-mail(s) |
[email protected]
|
| Phone |
0031715266528
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| Organization name |
LUMC
|
| Department |
Pathology
|
| Street address |
Albinusdreef 2
|
| City |
Leiden |
| State/province |
Zuid-Holland |
| ZIP/Postal code |
2333ZA |
| Country |
Netherlands |
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| Platforms (1) |
| GPL13754 |
Agilent-032447 Custom Human IDH Array |
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| Samples (16)
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| This SubSeries is part of SuperSeries: |
| GSE30844 |
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell haemangioma in Ollier disease and Maffucci syndrome |
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| Relations |
| BioProject |
PRJNA154811 |
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