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Updated: Nov 10, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Mutational Spectrum and Prognosis Analysis of AML Patients Based on High-Throughput Sequencing]
Jian-Xiong Li1, Heng Liu2, Hong-Xia Sheng3
1The 982th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army, Tangshan 063000, Hebei Province, China,Department of Hematopoietic Stem Cell Transplantation, The Fifth Medical Centre of the People's Liberation Army General Hospital & the Research Institute of Hematopoietic Stem Cell of the People's Liberation Army & Beijing Key Laboratory of Stem Cell Therapy and Transformation Research, Beijing 100071, China.
Objective:
To investigate the mutational spectrum and its prognostic significance in patients with acute myeloid leukemia (AML).
Methods:
The clinical data of 93 patients with newly diagnosed AML who underwent gene mutation detection by high-throughput sequencing (HTS) from March 2014 to April 2018 in our hospital was analyzed retrospectively. The distribution of mutant genes was summarized and the prognostic factors for intermediate-risk acute myeloid leukemia (IR-AML) were analyzed.
Results:
Among 93 AML patients, 88.17% had at least one gene mutation, and 53.76% patients showed more than one recurrent genetic mutation. CEBPA showed the highest mutation frequency (20.4%), followed by ASXL1, TET2, NRAS, FLT3-ITD, NPM1, IDH2, DNMT3A, and their mutation frequency were higher than 10%. IDH1/2 and NPM1, ASXL1 and U2AF1, FLT3 and NPM1 often co-occured (P < 0.05). In the prognosis analysis of 57 patients with IR-AML, the IDH2 mutation related with poor overall survival (OS) and progression-free survival (PFS) (P < 0.05). The prognosis analysis of IR-AML patients showed that age≥50 years, WBC >100×109/L, anemia, and CD22+ were independent risk factors for OS. Age≥50 years , WBC >100×109/L, anemia, CD34+, IDH2 mutation were independent risk factors for PFS.
Conclusion:
There are co-occurring mutation patterns between the mutated genes. IDH2 mutations relates with poor prognosis and possesses potential to be molecules for model of IR-AML prognostic stratification. Genetic testing based on HTS contributes to revealing the pathogenic mechanism of AML, and is significant for evaluating the prognosis of patients with AML.
