Znaczenie genu ETV6 w hematopoezie i leukemogenezie

Katarzyna Osmańska¹, Ewelina Łazarczyk¹, Barbara Mucha¹, Sylwia Stąpor²

Summary
Chromosomal aberrations and gene mutations play important role in hematological malignancies. Translocations involving 12p13 region are one of the most commonly observed chromosomal abnormalities in leukemias, myelodysplastic syndromes and myeloproliferative neoplasms. ETV6 (ETS translocation variant gene 6) gene, located in 12p13 band, is a member of ETS (E26 transformation-specific) transcription factors family. Members of ETS family are involved in angiogenesis and hematopoiesis, as well as growth and differentiation of cells. ETV6 is a strong transcriptional repressor, in which three domains can be distinguished: HLH (helix-loop-helix), ETS and internal domain. 48 chromosomal bands involved in ETV6 translocations, insertions and inversions have been found so far. Moreover, 30 ETV6 partner genes have been revealed. They belong to different classes: receptor and non-receptor tyrosine kinase genes, transcription factor genes, homeobox genes and others. ETV6-RUNX1 (TEL-AML1) is the most common ETV6 rearrangement. It results from t(12;21)(p13;q22).

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