Prevalence and impact of colony stimulating factor 3 receptor (CSF3R) mutations among Egyptian acute myeloid leukemia patients

Granulocyte-colony stimulating factor receptor (G-CSFR) mutations have been implicated in the progression of severe congenital neutropenia (SCN) to leukemia. This study aimed to investigate the prevalence of colony stimulating factor 3 receptor (CSF3R) mutations among Egyptian acute myeloid leukemia and their clinic-pathological impact. The study was conducted on 179 adult patients (156 de novo AML and 23 secondary AML on top of SCN). CSF3R mutations were analyzed by sequencing of the PCR products. CSF3R mutations were detected in 2 cases out of 156 de novo AML patients (1.2%) and eighteen cases out of 23 secondary AML patients (78.2%). It was noticed that most of the mutant cases are of younger age, have a high white blood cells count, high bone marrow blasts, bad performance status, and absence of extra medullary disease and with low rate induction remission. Also the overall survival of AML patient's secondary to CSF3R mutations was shorter as compared to those with wild type AML cases. In conclusion the frequency of CSF3R mutations is highly prevalent among AML patients secondary to SCN compared to de novo AML.