Mutational Analysis of FLT3 Internal Tandem Duplication and D835 in De novo Adult Acute Myeloid Leukemia

Aims: Acute myeloid leukemia is the most common acute leukemia in adult, resulting from genetic alterations in normal hematopoietic stem cells. Most studies focused on molecular genetic analysis of FLT3 gene. its mutations confer poor outcome to patients. This Cohort study presents a report concerning the frequency of FLT3-ITD and FLT3-D835 mutations in Iranian adult patients. Methodology: We analyzed the frequency of FLT3 mutations (ITD and D835) in 91 de novo adult AML patients with conventional PCR and PCR-RFLP methods. Results: we identified FLT3-ITD (27.47%) and FLT3-D835 (3.29%) in total 30.76 percent of patients. Furthermore, a significant correlation was observed between white blood cell (WBC) and blast cell count and the detected mutations (P-value<0.001). Except for the M6, FLT3 mutations were identified in other FAB type groups. Also mutations were observed in all three cytogenetic risk groups (favorable, intermediate and adverse). However, a significant correlation was detected between FLT3-ITD mutation and normal karyotype (P-value=0.032). Conclusion: Collectively, our studies show that FLT3 activating mutations are recurrent in Iranian de novo adult AML patients. These findings indicate that mutational analysis of molecular markers such as FLT3 will help to explore more effective therapeutic strategies and prognosis base on categorizing of the patients and that PCR and PCR-RFLP is a reliable and cost-effective method.

کلیدواژه ها:

Acute myeloid leukemia ، FLT3 ، mutation ، de novo