Mutation profile and associated clinical features in Chinese patients with cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia ( CN ‐ AML ), which accounted for nearly half of total AML patients, is a highly heterogeneous subset of AML . The specific genetic profile and the ethnic features of CN ‐ AML are worth to be studied. Methods Using deep sequencing technology, we detected the mutation pattern of 39 genes in 152 Chinese CN ‐ AML patients and analyzed their clinical features. Results A total of 503 mutations of 39 genes were identified in 145 (95.4%) patients, with the median number of 3 mutations per case. Nine genes ( NPM 1, CEBPA , DNMT 3A, GATA 2, NRAS , TET 2, FLT 3, IDH 2, and WT 1 ) mutated in more than 10% patients. Function groups of myeloid transcription factors, activated signaling, and DNA methylation were most affected. The distribution of variant allele frequencies ( VAF ) of recurrent genes was different among functional groups. High mutation rates of CEBPA and GATA 2 together with the low frequency of FLT 3‐ ITD mutation seemed to be the distinct characteristics of Chinese patients. Furthermore, CEBPA bi and GATA 2 were found to mutate most in M2 subtype, while NPM 1 and DNMT 3A mutated more in M4 and M5. The prognostic analysis identified CEBPA mo mutation as an inferior factor. FLT 3‐ ITD , TP 53, DNMT 3A , CEBPA mo , and WT 1 mutations were selected as high‐risk markers to identify the CN ‐ AML patients with poor prognosis. Conclusion Our study provided the valuable information of ethnic genetic characteristics and the clinical relevance of Chinese CN ‐ AML patients.