GSM753004[Accession] - GEO DataSets

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Items: 4

Select item 2000308441.

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell haemangioma in Ollier disease and Maffucci syndrome

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: Expression profiling by array; Methylation profiling by genome tiling array

Platforms:: GPL8490 GPL6884 GPL13754
55 Samples

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Series

Accession:: GSE30844

ID:: 200030844

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 2000303542.

Examination of Ollier Disease and Maffucci Syndrome using IDH Tiling Array

(Submitter supplied) 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. more...