Molecular Screening of Acute Myeloid Leukemia Patients of Pakistani Origin

Abstract

Acute Myeloid Leukemia is a heterogenous hematological malignancy resulting in rapid increase of immature myeloid cells or blasts in peripheral blood and bone marrow. Largely undocumented in Pakistan, AML has little treatment options and diagnostic measures. The aim of the study was to screen Pakistani sample of AML patients for FLT3/ITDs, ASXL1 and RUNX1, all genes relevant with worst prognosis of the disease and whether this triple gene signature can be used as a predictor of response to chemotherapy. Peripheral blood samples of 32 AML patients and 10 healthy controls were taken. To detect mutations PCR amplification and gel electrophoresis was used for FLT3/ITD and sanger sequencing technique was utilized for detecting mutations in RUNX1 (Exon 3 and 5) and ASXL1 (Exon 12). Six patients were FLT3/ITD mutant positive whereas 5 non-coding variants were identified in 3 patients respectively. It may be concluded from this study, that non coding variants have a role to play in bringing about AML in Pakistani populati