بررسی جهش‌های اگزون‌های 8 و 17 ژن C-KIT در مبتلایان به لوسمی میلوئیدی حاد در ایران

   Background & Aim: Mutations in c-kit gene cause autonomously proliferation of leukemic cells with an unfavorable prognosis.These mutations including exon 8 deletion and insertion in the fifth extracellular Ig-like domain and exon 17 point mutation in tyrosine kinase domain of c-kit receptors are important in acute myeloid leukemia. The aim of this study was to set up molecular diagnosis and screening of these mutations in AML patients.   Patients and Method: This observational descriptive study of mutations in c-kit receptors was done on 212 patients with AML . Exon 8 mutations were analyzed by PCR method with specific primers.Then, PCR products were run in 10% CSGE and the results were documented. We also studied exon 17 point mutations with RFLP technique and using AatII enzyme on PCR products of these patients.   Results: Exon 8 mutations were seen in 1.4% of AML patients though, the results were different in different subtypes. Also, 4.7% of the patients showed D816 (exon 17) mutations with different findings in the subtypes of AML .   Conclusion: This study revealed that c-kit mutations constitute a significant percentage of AML (M2&M4 subtypes) cases in Iran. Thus, molecular diagnosis of these mutations could help to select a better treatment.