Mutation Analysis and Clinicopathological Implications of Isocitrate Dehydrogenase 1/2 Mutation in Acute Myeloid Leukemia Patients in North India: A Tertiary Centre Based Study

Acute myeloid leukemia has been classified on the basis of morphology, cytochemistry and genetic profile. IDH gene is an epigenetic modifier whose mutation is involved in pathogenesis of various malignancies. This study was planned to study the prevalence of IDH1/2 mutation in denovo AML cases at a tertiary care Centre in North India and also to study its clinicopathological effect in these cases. We evaluated 60 patients registered at our Centre for diagnosis and treatment of AML. Routine investigations, bone marrow examination, flow cytometry were done followed by PCR and sequencing. Out of the total 60 patients of AML 4(6.7%) patients had IDH1R312 mutation and 5(8.3%) Patients had IDH2R172 mutation. IDH2 R140 mutation was not detected in any sample. IDH mutation was significantly associated with high risk AML group. No significant clinicopathological correlation was seen. In this study significant association was observed between IDH mutation and high risk AML cases. There was no paediatric case with IDH mutation. IDH mutation and AML might have an age related association.