Open Access

Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing

  • Authors:
    • Ying Li
    • Xiao Lv
    • Xueling Ge
    • Dai Yuan
    • Mei Ding
    • Changqing Zhen
    • Wenbo Zhao
    • Xin Liu
    • Xianghua Wang
    • Hongzhi Xu
    • Ying Li
    • Xin Wang
  • View Affiliations

  • Published online on: March 22, 2019     https://doi.org/10.3892/mmr.2019.10081
  • Pages: 4147-4158
  • Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of the present study was to examine the associations between 112 acute myeloid leukaemia (AML)‑associated genes and the prognosis and clinical features of AML using bioinformatics analysis in 62 patients with AML. A total of 61 gene mutations were identified, and ≥1 mutations were detected in 96.77% of the patients. A total of 11 frequent mutations were identified, including nucleophosmin 1 (NPM1), Fms related tyrosine kinase 3 (FLT3), DNA methyltransferase 3α (DNMT3A) and Notch 2 (NOTCH2), with a mutation rate of ≥10%. The FLT3 mutation was significantly associated with the white blood cell count at the time of diagnosis, and DNMT3A was significantly associated with the French‑American‑British subtype and cytogenetics of patients with AML. The FLT3, NPM1 and DNMT3A mutations were significantly associated with a poor overall survival (OS) in patients with AML. In addition, the co‑mutation of DNMT3A‑CCAAT enhancer binding protein α (CEBPA) was observed to be significantly associated with a poor OS in patients with AML. Furthermore, the functional enrichment analysis revealed that the co‑mutations of FLT3‑NOTCH2, SETBP1‑CREBBP and DNMT3A‑CEBPA were significantly enriched in processes of ‘negative regulation of cell differentiation’ and ‘immune system development’, indicating that these mutations may serve crucial roles in the diagnosis and treatment of AML.
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May-2019
Volume 19 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Li Y, Lv X, Ge X, Yuan D, Ding M, Zhen C, Zhao W, Liu X, Wang X, Xu H, Xu H, et al: Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing. Mol Med Rep 19: 4147-4158, 2019
APA
Li, Y., Lv, X., Ge, X., Yuan, D., Ding, M., Zhen, C. ... Wang, X. (2019). Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing. Molecular Medicine Reports, 19, 4147-4158. https://doi.org/10.3892/mmr.2019.10081
MLA
Li, Y., Lv, X., Ge, X., Yuan, D., Ding, M., Zhen, C., Zhao, W., Liu, X., Wang, X., Xu, H., Li, Y., Wang, X."Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing". Molecular Medicine Reports 19.5 (2019): 4147-4158.
Chicago
Li, Y., Lv, X., Ge, X., Yuan, D., Ding, M., Zhen, C., Zhao, W., Liu, X., Wang, X., Xu, H., Li, Y., Wang, X."Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing". Molecular Medicine Reports 19, no. 5 (2019): 4147-4158. https://doi.org/10.3892/mmr.2019.10081