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


Paediatric ALL (20-30%)
Usually Pre-B type and associated with favourable outcomes
Adult ALL (!~4%)
Associated with increased risk of late relapse.
Paediatric 'AML (20-30%)
associated with poor outcomes
ETV6 mutations are rare in adults (~1%) and are associated with intermediate risk.
ETV6 can be translocated with PDGFRA and is seen in 40-50% of clonal eosinophilia cases
MDS (!~3%)
Associated with reduced overall survival. It is seen more commonly (~16%) in patients with monosomy 7

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:
Gene Wiki entry for ETV6
1. General reference for ETV6 in haematology disorders
2. Influence on prognosis in MDS