Authors S.Hina Abbas Department of Pathology, Dow University Of Health Sciences Ikram din Ujjan Department of pathology, Liaquat University of Medical and Health Sciences Jawad Hassan Consultant, National Institute of Blood Diseases & Bone Marrow Transplantation Nida Anwar Department of Haematology, National Institute of Blood Disease and Bone marrow Transplant Karachi Pakistan DOI: https://doi.org/10.58397/ne2g5a82 Keywords: Acute Myeloid Leukemia, Isocitrate dehydrogenase, mutation, Hematological features Abstract

Objective: Mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2) genes are among the frequent epigenetic alterations of acute myeloid leukemia (AML). Despite being known as the first hit in tumorogenesis and contributing significantly to the pathogenesis of AML, their clinico-hematological features and prognostic significance are not entirely understood. This study aimed to identify the prevalence of IDH1/2 mutations in AML, their clinical-hematological characteristics, and their impact on survival.
Methods: The study included seventy-three (73) newly diagnosed AML cases. Bone marrow samples were collected for Cytogenetics and DNA extraction. The hotspots in codons IDH1 (R132) and IDH2 (R172 and R140) were examined via Sanger sequencing.
Results: IDH1 mutation was detected in 3 out of 73 (4.1 %) cases at codon 132, while IDH2 mutation was not detected in any of the 73 cases. All three AML Cases harboring IDH1 mutations showed normal cytogenetics (CN-AML) and, hence, lie in an intermediate risk category.
Conclusions: IDH1 mutation was seen in 4.1% of patients. Conversely, IDH2 mutation was not observed in any of the patients. IDH1 mutated cases have high white blood cell (WBC) count, younger age, and high blast cell count; however, there was no effect on overall survival.

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