Prevalence of IDH1/IDH2 Mutations in Adult Indian Acute Myeloid Leukaemia Patients and Their Impact on Outcome

Abstract

The study aimed at evaluating the prevalence of IDH1 and IDH2 mutations in Indian AML patients and ascertaining its impact on the treatment outcomes. A retrospective cohort study was carried out from 2019 to 2023, where 100 AML patients were tested for the presence of IDH mutations. The clinical and laboratory parameters of the patients were analysed and compared with an age matched control group of IDH1/2 negative AML patients. Treatment outcome was also compared between the groups and overall survival (OS) was calculated with subgroup analysis of intensive chemotherapy vs. Hypomethylating agent (HMA) and Venetoclax therapy in the IDH1/2 mutated group. A total of 26 (26%) patients tested positive for IDH mutations (19 for IDH1 and, 6 for IDH2, and one for both). Coexistence of IDH mutation with NPM1 mutation was observed in 7 patients (26.9%) while 3 patients (11.5%) showed positivity for FLT3 mutations. Sixteen patients opted for therapy at our centre; of which 62.5% received intensive chemotherapy and 37.5% received hypomethylating agents and venetoclax. Relapse was seen in 31.2% vs. 18.7% and mean OS was 1.6 years vs. 2.5 years in the IDHmut vs. the control arm. Overall mortality was 37.5% in IDHmut as compared to 25% in the control arm. The study thus higlights that IDHmut AML patients had a higher relapse and poorer survival outcome when compared to the IDH negative control group.