Spectrum of gene mutations identified by targeted next‐generation sequencing in Chinese leukemia patients

Molecular Genetics & Genomic Medicine

Yipeng Ding¹  Guyun Wang²  Congming Wu²  Wenting Chen²  Xiangjun Fu²  Li Guo²  Yanping Pan²  Hongxia Yao²  Yueqing Chen³ 

[1] Department of General Practice Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University) Haikou Hainan P.R. China;Department of Hematology Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University) Haikou Hainan P.R. China;Hainan General HospitalUniversity of South China Haikou Hainan China;

关键词: gene ontology;    INDELs;    Leukemia;    pathway analysis;    SNVs;   

DOI  :  10.1002/mgg3.1369

来源: DOAJ

【 摘 要 】

Abstract Background Despite targeted sequencing have identified several mutations for leukemia, there is still a limit of mutation screening for Chinese leukemia. Here, we used targeted next‐generation sequencing for testing the mutation patterns of Chinese leukemia patients. Methods We performed targeted sequencing of 504 tumor‐related genes in 109 leukemia samples to identify single‐nucleotide variants (SNVs) and insertions and deletions (INDELs). Pathogenic variants were assessed based on the American College of Medical Genetics and Genomics (ACMG) guidelines. The functional impact of pathogenic genes was explored through gene ontology (GO), pathway analysis, and protein–protein interaction network in silico. Results We identified a total of 4,655 SNVs and 614 INDELs in 419 genes, in which PDE4DIP, NOTCH2, FANCA, BCR, and ROS1 emerged as the highly mutated genes. Of note, we were the first to demonstrate an association of PDE4DIP mutation and leukemia. Based on ACMG guidelines, 39 pathogenic and likely pathogenic mutations in 27 genes were found. GO annotation showed that the biological process including gland development, leukocyte differentiation, respiratory system development, myeloid leukocyte differentiation, mesenchymal to epithelial transition, and so on were involved. Conclusion Our study provided a map of gene mutations in Chinese patients with leukemia and gave insights into the molecular pathogenesis of leukemia.

【 授权许可】

Unknown