Edit ID | Edit Comment | Time | |
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402317 | updating ETV6 mutation | 11/12/2018 3:41 PM |
ETV6 is a transcriptional repressor and is frequently involved in translocations with a variety of different partner genes in a range of hematologic malignancies. Mutations of ETV6 have been described in approximately 10-24% of early T cell precursor type(immature), T cell acute lymhoblastic leukemias; these mutations occur throughout the gene and typically correspond to loss of function mutations (missense, nonsense and frameshift mutations). ETV6 mutations may occasionally occur in a homozygous/hemizygous manner and tend to occur with mutations in NOTCH1. Deletions and/or translocations inolving ETV6 are not detected by this assay.
ETV6 is a transcriptional repressor and is frequently involved in translocations with a variety of different partner genes in a range of hematologic malignancies. Mutations of ETV6 have been described in <5% of myelodysplastic syndromes and appear to be more frequent (ie, 10-24% of cases) in early T cell precursor type (immature) acute lymphoblastic leukemias. These mutations occur throughout the gene and typically correspond to loss of function mutations (nonsense and frameshift mutations). ETV6 mutations may occasionally occur in a homozygous/hemizygous manner and tend to occur with mutations in NOTCH1. In MDS, ETV6 mutations have been associated with an adverse prognosis.