Abstract

Molecular screening plays a major role in prognostic categorization and subsequent definition of treatment strategies for acute myeloid leukaemia. Aim of the work: To classify patients of AML patients and to determine the frequency of IDH 1 mutations using RQ-PCR Material and Methods: We did this prospective observational study at tertiary care center between January 2021 and June 2022. DNA was extracted from pre-treatment peripheral blood samples of 50 patients with de novo AML was used. The exon 4 of IDH1 were amplified using the previously generated mismatched primers suitable for endonuclease based detection of mutations in codon 132 of IDH1 gene by PCR. Results: The median age of IDH1 mutant AML patients is 43 years (39-48 years). The male to female ratio was 3:1. IDH1 mutations were diagnosed in 8% (p-value: 0.621) of the participants, all the mutant cases showed mutation at R132H gene (395G>A). Median PB blasts of mutant IDH patients was 85.5% (80-90%) vs. 50.68% (25-68%) for wild type (p-value: 0.001). Conclusion: IDH1 mutations are recurring genetic alterations in AML and they may have unfavourable impact on clinical outcome in adult AML. The prognostic and therapeutic implications of IDH mutations in AML led to the recent recommendation by the College of American Pathologists and the American Society of Haematology to test for IDH1 and IDH2 mutations during the diagnostic workup for AML. The RQ-PCR method allows for a fast and sensitive method for the detection of IDH1 mutations in AML

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