EVI1 Breakapart LPH036 - Detail

Chromosome rearrangements involving band 3q26.2 are associated with myeloid malignancies, aberrant expression of the human ecotropic virus integration site 1 (EVI1) gene, an unfavourable prognosis and an aggressive clinical course¹. The EVI1 gene encodes a 1051 amino acid finger protein inappropriately expressed in the leukaemic cells of between 2-5% of AML and MDS patients². This activation often follows a chromosomal rearrangement involving 3q26 and the two most common translocations, the t(3;3)(q21;q26) and inv(3)(q21q26). EVI1 also exists as a longer protein which includes 188 additional amino acids at the N-terminus named MDS1/EV1. The breakpoints for the translocations and inversions vary considerably. Inv(3) breakpoints are found centromeric to and including the EVI1 gene and cover about 600kb. The breakpoints in 3q26.2 translocations are telomeric to the EVI1 gene and cover a region including the telomeric end of the MDS1 gene and the MYNN gene¹.

Reference:/Bibliographie/Literatur/Bibliografia

1. Bobadilla D et al (2007) Br Haematol 136: 806-13
2. Soderholm J et al (1997) Leukemia 11: 352-358