Abstract

Chronic myeloid leukemia is a multifactorial molecular anomaly that confounds the standardization of therapy to date. It is triggered by a broad spectrum of “fused oncoproteins” which are entailed in the disease refractoriness. In Pakistan the molecular diagnosis for leukemia is still in its infancy, as the diagnosis does not efficiently encompass a wide range of the fusion transcripts which are generated as a result of exclusive genomic rearrangements. Two point mutations C944T and T932C of ABL gene were detected which cause complete/partial imatinib resistance with limelight NUP98-LEDGF fusion transcript. It will be helpful in understanding primary resistance of molecularly targeted cancer therapies.

Key words: Allele-specific oligonucleotide polymerase chain reaction (ASO-PCR), leukemia, myeloid, chronic, imatinib.