Detection of Isocitrate Dehydrogenase Mutated Glioblastomas Through Anomaly Detection Analytics

Abstract

BACKGROUND The rarity of Isocitrate Dehydrogenase mutated (mIDH) glioblastomas relative to wild-type IDH glioblastomas, as well as their distinct tumor physiology, effectively render them “outliers”. Specialized tools are needed to identify these outliers. OBJECTIVE To carefully craft and apply anomaly detection methods to identify mIDH glioblastoma based on radiomic features derived from magnetic resonance imaging. METHODS T1-post gadolinium images for 188 patients and 138 patients were downloaded from The Cancer Imaging Archive's (TCIA) The Cancer Genome Atlas (TCGA) glioblastoma collection, and from the University of Minnesota Medical Center (UMMC), respectively. Anomaly detection methods were tested on glioblastoma image features for the precision of mIDH detection and compared to standard classification methods. RESULTS Using anomaly detection training methods, we were able to detect IDH mutations from features in noncontrast-enhancing regions in glioblastoma with an average precision of 75.0%, 69.9%, and 69.8% using three different models. Anomaly detection methods consistently outperformed traditional two-class classification methods from 2 unique learning models (67.9%, 67.6%). The disparity in performances could not be overcome through newer, popular models such as neural networks (67.4%). CONCLUSION We employed an anomaly detection strategy in the detection of IDH mutation in glioblastoma using preoperative T1 postcontrast imaging. We show these methods outperform traditional two-class classification in the setting of dataset imbalances inherent to IDH mutation prevalence in glioblastoma. We validate our results using an external dataset and highlight new possible avenues for radiogenomic rare event prediction in glioblastoma and beyond.

Radiogenomic Predictors of Recurrence in Glioblastoma—A Systematic Review

“…Machine learning algorithms for program-controlled, non-invasive detection of radiogenomic markers in IDH and EGFR in low-grade gliomas and glioblastomas showed success rates of over 80% [ 101 ]. Similarly, experiments using anomaly detection analytics detected IDH mutations in glioblastomas using preoperative T1-weighted MR sequences [ 119 ]. A neural network-based approach using high-dimensional gene expression data to perform non-linear mapping to imaging traits also showed that imaging features of the tumor exhibited specific transcriptional patterns [ 120 ].…”