Mutaome analysis including 10 common mutated genes in newly diagnosed acute myeloid leukemia patients

Abstract

Objective To investigate the mutaome profile of the 10 common mutated genes in newly diagnosed acute myeloid leukemia(AML)patients. Methods Gene mutations of ASXL1, CEBPA, DNMT3A, FLT3, IDH1/2, KIT, NPM1, PHF6 and TET2 were analyzed using Sanger sequencing method in bone marrow samples of 129 newly diagnosed AML patients. Results 68.99 %(89/129)patients carried at least one mutation, and 30.23 %(39/129)carried multiple mutations. Mutations of kinase gene FLT3 and KIT were mutually exclusive, and FLT3 mutations occured more often with other mutations, while KIT mutations usually occured alone. Mutations of transcription factor genes CEBPA, NPM1 and PHF6 were accompany with each other. Mutations of epigenetic regulation genes ASXL1, DNMT3A, IDH1/2 and TET2 were mutually exclusive, but were accompany with mutations of kinase or transcription factor genes. Conclusions There are certain rules in the appearance of genetic mutations, and which are related to the function and classification of genes. Key words: Leukemia, myeloid, acute; Newly diagnosed; Gene mutation; Mutaome