تشخیص جهش‌های گیرنده FLT3 شامل تضاعف توالی داخلی و جهش نقطه‌ای اسید آسپارتیک D835 در بیماران مبتلا به لوسمی میلوئیدی حاد

    Background and Aim: Molecular basis of Acute Myeloid Leukemia (AML) involves mutations in regulatory genes of cellular proliferation and differentiation.Mutation in tyrosine kinase receptor gene of FLT3 occurs in high frequency in AML, resulting in proliferation and abnormal survival of leukemia cells. Mutations in Internal Tandem Duplication (ITD) and D835 of FLT3 gene are associated with poor prognosis .The aim of this study was to diagnose and determine the frequency of this mutation in AML.Materials and Methods: This descriptive - observational study was performed on 101 AML patients for mutations in exon 11,12 and interon 11 of ITD and D835 mutation in exon 20 of FLT3 receptor gene using PCR .Mutation in ITD was observed using PCR products run on acrylamid gel 8% and compared to marker. PCR products of D835 mutation on genomic DNA were studied using ECORV restriction enzyme and RFLP technique.Results: ITD mutation was observed in 18% of AML studied patients with differences in subgroups of FAB. Also 6% of the patients showed D835 mutation with difference in subgroups of FAB.Conclusion:This study revealed that mutations in FLT3 gene occurr in substantial number of AML patients. Therefore ,molecular diagnosis of these mutations prior to treatment leads to a better decision making for the therapeutic protocol.