- Gene affected:
- ETV6 - translocation-Ets-leukemia virus
- Clinical significance
- ETV6 is present in paediatric AML and ALL in chromosomal translocations, where the prognosis is variable depending on the leukaemia. It is also present in PDGFRA translocations where it has therapeutic implications (these patients often respond to tyrosine kinase inhibitors).
Function of gene
ETV6 is a strong transcriptional repressor and several ETV6-mediated mechanisms are involved in haematological malignancy.
NGS panel gene coverage
Full gene sequence
An inherited ETV6 mutation is associated with Thrombocytopenia 5- an autosomal dominant familial disease with thrombocytopenia, macrocytosis and abnormal megkaryocytes with an increased risk of AML, ALL, CMML and myeloma as well non haematological malignancy.
- GeneWiki link: