Mutation Profile of FLT3 gene in Iranian Patients with Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clonal disorder of the blood forming cells characterized by accumulation of immature blast cells in the bone marrow and peripheral blood. Being a heterogeneous disease, AML has been the subject of numerous studies that focus on unraveling the molecular variations with the aim to better understand and treat the disease. We aimed to study the FLT3 gene mutation profile in a cohort of Iranian adult acute myeloid leukemia patients. We studied 139 AML patients and determined the status of FLT3 gene regarding tyrosine kinase domain (TKD) codon 835 mutation and internal tandem duplication (ITD) using polymerase chain reaction- restriction fragment polymorphism and fragment analysis methods, respectively. Eight out of 139 patients (5.7%) had codon 835 mutation. One new mutation of insertion/ deletion type was discovered. 25.4 percent of the patients had ITD mutation. Mean size of the inserted fragment was 63.57 base pairs. The frequency of ITD mutation was 25.5% amongst patients with normal cytogenetics. Fragment analysis and gel electrophoresis methods showed consistent results. Twenty percent of the ITD mutation positive patients showed more than one mutated populations upon polymerase chain reaction. Two patients (1.4%) showed concurrent TKD and ITD mutations. The TKD and ITD mutation rates of the FLT3 gene were consistent with previous studies on AML patients.

کلیدواژه ها:

acute myeloid leukemia ، FLT3 ، TKD mutation ، ITD mutation ، RFLP ، fragment analysis