Objectives: To assess the diagnostic accuracy of machine learning (ML) in predicting isocitrate dehydrogenase (IDH) mutations in patients with glioma and to identify potential covariates that could influence the diagnostic performance of ML.
Methods: A systematic search of PubMed, Web of Science, and the Cochrane library up to 1 August 2019 was conducted to collect all the articles investigating the diagnostic performance of ML for prediction of IDH mutation in glioma. The search strategy combined synonyms for 'machine learning', 'glioma', and 'IDH'. Pooled sensitivity, specificity, and their 95% confidence intervals (CIs) were calculated, and the area under the receiver operating characteristic curve (AUC) was obtained.
Results: Nine original articles assessing a total of 996 patients with glioma were included. Among these studies, five divided the participants into training and validation sets, while the remaining four studies only had a training set. The AUC of ML for predicting IDH mutation in the training and validation sets was 93% (95% CI 91-95%) and 89% (95% CI 86-92%), respectively. The pooled sensitivity and specificity were, respectively, 87% (95% CI 82-91%) and 88% (95% CI 83-92%) in the training set and 87% (95% CI 76-93%) and 90% (95% CI 72-97%) in the validation set. In subgroup analyses in the training set, the combined use of clinical and imaging features with ML yielded higher sensitivity (90% vs. 83%) and specificity (90% vs. 82%) than the use of imaging features alone. In addition, ML performed better for high-grade gliomas than for low-grade gliomas, and ML that used conventional MRI sequences demonstrated higher specificity for predicting IDH mutation than ML using conventional and advanced MRI sequences.
Conclusions: ML demonstrated an excellent diagnostic performance in predicting IDH mutation of glioma. Clinical information, MRI sequences, and glioma grade were the main factors influencing diagnostic specificity.
Key points: • Machine learning demonstrated an excellent diagnostic performance for prediction of IDH mutation in glioma (the pooled sensitivity and specificity were 88% and 87%, respectively). • Machine learning that used conventional MRI sequences demonstrated higher specificity in predicting IDH mutation than that based on conventional and advanced MRI sequences (89% vs. 85%). • Integration of clinical and imaging features in machine learning yielded a higher sensitivity (90% vs. 83%) and specificity (90% vs. 82%) than that achieved by using imaging features alone.
Keywords: Glioma; Isocitrate dehydrogenase (IDH); MRI; Machine learning.