Investigation of IDH1 and IDH2 gene mutations in AML and MDS patients with trisomy 8 anomaly

Title: Investigation of IDH1 and IDH2 gene mutations in AML and MDS cases with trisomy 8 anomaly Objective: With this work; investigation of mutations in IDH1 and IDH2 genes in AML and MDS cases with isolated trisomy 8(+8) anomaly and determining their incidence in both disease groups; to determine whether these gene mutations are effective in the clinical difference beyween the two groups by revealing the difference between them in terms of related gene mutations was aimed. Method: In 45 patients, 23 of whom were diagnosed with AML and 22 with MDS, isolated trisomy 8 anomaly was detected by conventional and molecular cytogenetic analyzes; analysis of hotspot mutations of R132 for IDH1 and R140 for IDH2 in exons 4 of IDH1 and IDH2 genes were performed by Real- time PCR method. Results: As a result of our Real- time PCR study conducted for IDH1 and IDH2 gene mutations in cases diagnosed with Acute myeloid leukemia and MDS; heterozygous muttaion were found in only IDH1 gene in 2 patients which are 1 of these is AML and another is MDS and only IDH2 gene in 1 patient which is MDS. Heterozygous mutations in both of the relevant genes were detected in 1 patient with acute myleoid leukemia. Conclusion: The obtained data is support that +8 and IDH1/2 mutations do not accompany each other in AML and MDS cases. However, when the cases with mutations were evaluated together with their clinical data, it was suggested that the relevant gene mutations may be associated with poor prognosis and treatment resistance in AML. As a result of our study, it was concluded that there is a need to investigate the relevant gene mutations in more cases in order to definitively reveal the negative prognostic effects of IDH1/2 muttaions in AML and MDS caes with trisomy 8.