Research progress of cohesin complex mutation in acute myeloid leukemia

Abstract

Acute myeloid leukemia (AML) is a heterogenous hematopoietic malignancy that arises from clonal expansion and abnormal differentiation of myeloid precursor cells. Recently, recurrent mutation of cohesin complex has been discovered in AML based on next generation sequencing. Cohesin complex mainly functions as maintaining sister chromatid cohesion during mitosis, which also plays a prominent role in gene expression. Cohesin mutations confer both enhanced self-renewal and altered differtiation to hematopoietic stem and progenitor cells. Of note, cohesin mutations are associated with Down syndrome-associated acute megakaryocytic leukemia (DS-AMKL). Cohesin mutation provides potential target for clinical AML treatment. In this paper, the pathogenesis and progress of cohesin mutation in AML are reviewed. Key words: Leukemia, myeloid, acute; Mutation; Cohesin; Down syndrome-associated acute megakaryocytic leukemia (DS-AMKL)