Deregulated expression of the ecotropic virus integration site 1 (EVI1) gene is the molecular hallmark of therapy-resistant myeloid malignancies bearing chromosomal inv(3)(q21q26·2) or t(3;3)(q21;q26·2) [hereafter referred to as inv(3)/t(3;3)] abnormalities. EVI1 is a haematopoietic stemness and transcription factor with chromatin remodelling activity. Interestingly, the EVI1 gene also shows overexpression in 6-11% of adult acute myeloid leukaemia (AML) cases that do not carry any 3q aberrations. Deregulated expression of EVI1 is strongly associated with monosomy 7 and 11q23 abnormalities, which are known to be associated with poor response to treatment. However, EVI1 overexpression has been revealed as an important independent adverse prognostic marker in adult AML and defines distinct risk categories in 11q23-rearranged AML. Recently, important progress has been made in the delineation of the mechanism by which EVI1 becomes deregulated in inv(3)/t(3;3) as well as the cooperating mutations in this specific subset of AML with dismal prognosis.

Acute myeloid leukaemia, AML, Ecotropic virus integration site 1, EVI1, Expression, Prognosis
dx.doi.org/10.1111/bjh.13898, hdl.handle.net/1765/82059
British Journal of Haematology
Department of Hematology

Hinai, A.A, & Valk, P.J.M. (2016). Review: Aberrant EVI1 expression in acute myeloid leukaemia. British Journal of Haematology (Vol. 172, pp. 870–878). doi:10.1111/bjh.13898