Genomic analysis of primary and recurrent gliomas reveals clinical outcome related molecular features

Sci Rep. 2019 Nov 5;9(1):16058. doi: 10.1038/s41598-019-52515-9.


Tremendous efforts have been made to explore biomarkers for classification and grading on gliomas. The goal of this study was to identify more molecular features that are associated with clinical outcomes by comparing the genomic profiles of primary and recurrent gliomas and determine potential recurrence leading factors that are significantly enriched in relapse tumors. Hybrid capture based next generation sequencing (NGS) analysis was performed on 64 primary and 17 recurrent glioma biopsies. Copy number variation (CNV) was more frequent in recurrent tumors and CDKN2A/B loss was significantly enriched. In addition, overall mutations in cell cycle pathway are more common in relapse tumors. The patterns of gene sets, including IDH1/TERT and IDH1/TP53 exhibited significant difference between the groups. Survival analysis uncovered the worse disease-free survival (DFS) and overall survival (OS) associated with altered copy number and excessive activation of CELL CYCLE pathway. High Tumor Mutation Burden (TMB) was also a biomarker with great potential for poor prognosis. The assessment of genomic characteristics in primary versus recurrent gliomas aids the discovery of potential predictive biomarkers. The prognostic value of TMB in gliomas was raised for the first time.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers, Tumor / genetics*
  • DNA Copy Number Variations*
  • Disease-Free Survival
  • Female
  • Glioma* / genetics
  • Glioma* / mortality
  • Glioma* / pathology
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Neoplasm Recurrence, Local* / genetics
  • Neoplasm Recurrence, Local* / mortality
  • Neoplasm Recurrence, Local* / pathology
  • Survival Rate


  • Biomarkers, Tumor
  • Neoplasm Proteins