Conventional Cytogenetic and Molecular Analysis in Acute Myeloid Leukemia (AML) and Their Association with Overall Survival

Abstract

Abstract Background: Conventional cytogenetic is one of the most important diagnostic tools for predicting the overall survival of the patients. Molecular genetics in acute myeloid leukemia (AML) has provided insights into the molecular mechanism of leukemogenesis. In this study we aimed to investigate the impact of cytogenetic and molecular methods on the survival of patients with de novo established AML in order to achieve a useful marker or test in the process of predicting the disease course. Material and methods: Eighty newly diagnosed AML patients who were treatment naive entered the study. Cytogenetic and molecular studies such as, the conventional karyotyping, sequencing and reverse transcriptase real time quantitative PCR (RT-qPCR) were included. Overall survival was calculated by Kaplan-Maier technique and the data were analyzed by SPSS.V.19. Results: Among 80 patients, 36 (45%) were female and 44 (55%) were male patients. Patients’ median age was 29 years, ranging from 1 to 76 years. The mean overall survival was 19 months (95% CI: 1523 months). The 1-year AML survival rate was 61%. There were significant differences in overall survival between the NPM1-mutated groups compared to the patients without any mutations (19% versus 61%) (p < 0.032). Conclusion: This study makes a significant contribution in assessing the prognostic value of cytogenetic and molecular markers. This study showed the heterogeneity of de novo AML that involved various factors and prevalence of distinct cytogenetic subgroups. Our data in comparison with other population-based studies, confirmed a differential distribution of cytogenetic and molecular classification indicating geographic heterogeneity.