Molecular and Pathologic Characterization of AML with Double Inv(3)(q21q26.2)

Inversion or translocation of chromosome 3, specifically inv(3)(q21q26.2/t(3;3)(q21;q26.2), is a recurrent finding in myeloid malignancies. These rearrangements usually result in elevated expression of the proto-oncogene MECOM (EVI1) at 3q26.2, through juxtaposition with a distal GATA2 enhancer. [1,2] Acute myeloid leukemia (AML) with inv(3)/t(3;3) is classified by the WHO as a distinct entity which can present de novo or arise from prior myelodysplastic syndrome (MDS) and is associated with aggressive disease, minimal or no response to chemotherapy, and short survival [3,4].
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research