Gliosarcoma: distinct molecular pathways and genomic alterations identified by DNA copy number/SNP microarray analysis

J Neurooncol. 2019 Jul;143(3):381-392. doi: 10.1007/s11060-019-03184-1. Epub 2019 May 9.

Abstract

Purpose: Gliosarcoma is a histologic variant of glioblastoma (GBM), and like GBM carries a poor prognosis. Median survival is less than one (1) year with less than 5% of patients alive after 5 years. Although there is no cure, standard treatment includes surgery, radiation and chemotherapy. While very similar to GBM, gliosarcoma exhibits several distinct differences, morphologically and molecularly. Therefore, we report a comprehensive analysis of DNA copy number changes in gliosarcoma using a cytogenomic DNA copy number (CN) microarray (OncoScan®).

Methods: Cytogenomic DNA copy number microarray (OncoScan®) was performed on 18 cases of gliosarcoma. MetaCore™ enrichment was applied to the array results to detect associated molecular pathways.

Results: The most frequent alteration was copy number loss, comprising 57% of total copy number changes. The number of losses far exceeded the number of amplifications (***, < 0.001) and loss of heterozygosity events (***, < 0.001). Amplifications were infrequent (4.6%), particularly for EGFR. Chromosomes 9 and 10 had the highest number of losses; a large portion of which correlated to CDKN2A/B loss. Copy number gains were the second most common alteration (26.2%), with the majority occurring on chromosome 7. MetaCore™ enrichment detected notable pathways for copy number gains including: HOXA, Rho family of GTPases, and EGFR; copy number loss including: WNT, NF-kß, and CDKN2A; and copy number loss of heterozygosity including: WNT and p53.

Conclusions: The pathways and copy number alterations detected in this study may represent key drivers in gliosarcoma oncogenesis and may provide a starting point toward targeted oncologic analysis with therapeutic potential.

Keywords: EGFR; Glioblastoma; Glioma; Gliosarcoma; Microarray; Oncoscan.

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / genetics*
  • DNA Copy Number Variations*
  • Female
  • Follow-Up Studies
  • Genomics / methods*
  • Gliosarcoma / genetics*
  • Gliosarcoma / pathology
  • Gliosarcoma / surgery
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local / genetics*
  • Neoplasm Recurrence, Local / pathology
  • Neoplasm Recurrence, Local / surgery
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Retrospective Studies
  • Signal Transduction*
  • Survival Rate

Substances

  • Biomarkers, Tumor