Somatic mutations associated with MRI-derived volumetric features in glioblastoma

Neuroradiology. 2015 Dec;57(12):1227-37. doi: 10.1007/s00234-015-1576-7. Epub 2015 Sep 4.


Introduction: MR imaging can noninvasively visualize tumor phenotype characteristics at the macroscopic level. Here, we investigated whether somatic mutations are associated with and can be predicted by MRI-derived tumor imaging features of glioblastoma (GBM).

Methods: Seventy-six GBM patients were identified from The Cancer Imaging Archive for whom preoperative T1-contrast (T1C) and T2-FLAIR MR images were available. For each tumor, a set of volumetric imaging features and their ratios were measured, including necrosis, contrast enhancing, and edema volumes. Imaging genomics analysis assessed the association of these features with mutation status of nine genes frequently altered in adult GBM. Finally, area under the curve (AUC) analysis was conducted to evaluate the predictive performance of imaging features for mutational status.

Results: Our results demonstrate that MR imaging features are strongly associated with mutation status. For example, TP53-mutated tumors had significantly smaller contrast enhancing and necrosis volumes (p = 0.012 and 0.017, respectively) and RB1-mutated tumors had significantly smaller edema volumes (p = 0.015) compared to wild-type tumors. MRI volumetric features were also found to significantly predict mutational status. For example, AUC analysis results indicated that TP53, RB1, NF1, EGFR, and PDGFRA mutations could each be significantly predicted by at least one imaging feature.

Conclusion: MRI-derived volumetric features are significantly associated with and predictive of several cancer-relevant, drug-targetable DNA mutations in glioblastoma. These results may shed insight into unique growth characteristics of individual tumors at the macroscopic level resulting from molecular events as well as increase the use of noninvasive imaging in personalized medicine.

Keywords: GBM; Imaging genomics; MRI; Radiogenomics; Volumetrics.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aged
  • Brain Neoplasms / epidemiology
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology*
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Glioblastoma / epidemiology
  • Glioblastoma / genetics*
  • Glioblastoma / pathology*
  • Humans
  • Imaging, Three-Dimensional / statistics & numerical data
  • Magnetic Resonance Imaging / statistics & numerical data*
  • Male
  • Middle Aged
  • Mutation / genetics
  • Neoplasm Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Prevalence
  • Reproducibility of Results
  • Risk Factors
  • Sensitivity and Specificity
  • United States / epidemiology


  • Genetic Markers
  • Neoplasm Proteins