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CSF3R mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia

Cancer Jun 29, 2018

Zhang Y, et al. - Researchers investigated the prevalence of colony-stimulating factor 3 receptor (CSF3R) mutations in acute leukemia and their link with other genetic abnormalities. They retrospectively performed amplicon-targeted, next-generation sequencing of 58 genes on acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL) patients. To detect 35 leukemia-specific gene fusions, they used reverse transcriptase-polymerase chain reaction analysis. They found CSF3R mutations were uncommon in AML. However, their link with core-binding factor gene abnormalities and CEBPAdm was often evident whenever their occurrence was reported. The role of CSF3R mutations in AML development may be better understood by gaining an in-depth understanding of the interaction between these genetic alterations.

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