A fully automated artificial intelligence method for non-invasive, imaging-based identification of genetic alterations in glioblastomas

Sci Rep. 2020 Jul 16;10(1):11852. doi: 10.1038/s41598-020-68857-8.

Abstract

Glioblastoma is the most common malignant brain parenchymal tumor yet remains challenging to treat. The current standard of care-resection and chemoradiation-is limited in part due to the genetic heterogeneity of glioblastoma. Previous studies have identified several tumor genetic biomarkers that are frequently present in glioblastoma and can alter clinical management. Currently, genetic biomarker status is confirmed with tissue sampling, which is costly and only available after tumor resection or biopsy. The purpose of this study was to evaluate a fully automated artificial intelligence approach for predicting the status of several common glioblastoma genetic biomarkers on preoperative MRI. We retrospectively analyzed multisequence preoperative brain MRI from 199 adult patients with glioblastoma who subsequently underwent tumor resection and genetic testing. Radiomics features extracted from fully automated deep learning-based tumor segmentations were used to predict nine common glioblastoma genetic biomarkers with random forest regression. The proposed fully automated method was useful for predicting IDH mutations (sensitivity = 0.93, specificity = 0.88), ATRX mutations (sensitivity = 0.94, specificity = 0.92), chromosome 7/10 aneuploidies (sensitivity = 0.90, specificity = 0.88), and CDKN2 family mutations (sensitivity = 0.76, specificity = 0.86).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aneuploidy*
  • Artificial Intelligence / statistics & numerical data*
  • Biomarkers, Tumor / genetics
  • Brain Neoplasms / diagnostic imaging
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery
  • Chromosomes, Human, Pair 10 / chemistry
  • Chromosomes, Human, Pair 7 / chemistry
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics*
  • Decision Trees
  • Female
  • Gene Expression
  • Glioblastoma / diagnostic imaging
  • Glioblastoma / genetics*
  • Glioblastoma / pathology
  • Glioblastoma / surgery
  • Humans
  • Image Interpretation, Computer-Assisted / statistics & numerical data
  • Isocitrate Dehydrogenase / genetics*
  • Magnetic Resonance Imaging / statistics & numerical data
  • Male
  • Mutation
  • Preoperative Care
  • Retrospective Studies
  • Sensitivity and Specificity
  • X-linked Nuclear Protein / genetics*

Substances

  • Biomarkers, Tumor
  • Cyclin-Dependent Kinase Inhibitor p16
  • Isocitrate Dehydrogenase
  • IDH1 protein, human
  • ATRX protein, human
  • X-linked Nuclear Protein