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All-Trans-Retinoic Acid Treatment of IDH Mutant Astrocytes

ABSTRACT: Immortalized human astrocytes were stably transfected to express IDH1 R132H. These cells were treated with 1uM ATRA

ORGANISM(S): Homo sapiens

PROVIDER: GSE252527 | GEO | 2024/04/01

REPOSITORIES: GEO

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All-Trans-Retinoic Acid Treatment of IDH Mutant Astrocytes

Project description:Immortalized human astrocytes were stably transfected to express IDH1 R132H. These cells were treated with 1uM ATRA

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Project description:All-Trans-Retinoic Acid Treatment of IDH Mutant Astrocytes

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Project description: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. 16 samples were analyzed in two color experiment, using normal male or female as a reference sample (gender mismatched)

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