Identification of two novel mutations in human acute myeloid leukemia cases

Acute myeloid leukemia (AML) is an aggressive cancer that progresses rapidly with a poor prognosis. Cytogenetic analysis provides the most accurate determination of diagnosis and prognosis however, about 42-48% of AML patients have a cytogenetically normal karyotype. Genetic analysis can provide further information and the identification of new mutations could result in improved risk stratification, prognosis and better understanding of the mechanisms of AML leukaemogenesis. In this study, we analyzed genetic alterations in 16 human AML cases by Haloplex sequencing with confirmation of two previously unreported mutations in the genesDNMT3AandRUNX1by Sanger sequencing or pyrosequencing. The two novel mutations consist of two frameshift mutations identified in two different AML patients and reported as deleterious by bioinformatic analysis. These mutations confirm the exclusion and co-occurrence of specific gene mutation patterns in AML and may provide further information for patient diagnosis and prognosis.

Automated summary

AML is an aggressive cancer with rapid progression, where cytogenetic and genetic analysis play crucial roles in diagnosis and prognosis. This study identified two novel deleterious mutations in DNMT3A and RUNX1 genes, providing additional information for patient diagnosis and prognosis. The exclusion and co-occurrence of specific gene mutation patterns in AML were also confirmed, offering insights into the mechanisms of AML leukaemogenesis.