The ASXLi (additional sex combs like 1) gene on 20q11 codifies the ASXL1 protein that belongs to protein complexes that play a role in gene expression and epigenetic regulation. ASXLi is located near the DNMT3B gene and is part of a family of three genes (ASXLi, ASXL2, ASXL3) that are homologues to the Drosophila Asx gene. The ASXLi gene contains a total of 14 exons and is expressed in the vast majority of hematopoietic cell types. While the specific job of ASXLi in normal hematopoiesis and the involvement of mutated ASXLi to the progression of hematopoietic malignancies have not yet been fully set forth, current data studies propose that ASXLi is characterized as a tumor suppressor gene.Mutations in the ASXLi gene are observed in myeloid malignancies usually associated with aggressiveness and poor clinical results and were reported first in the year 2009 in myelodysplastic syndromes (MDS). Nevertheless, ASXLi gene mutations are also found in acute myeloid leukemia (AML) with normal karyotype as well as AML with myelodysplasia-related changes and AML with non-characteristic cytogenetic findings.Herein we examine the involvement of the ASXLi gene in AML to address the importance of these ASXLi mutations in the prognostic evaluation of AML.
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