The Performance of Artificial Intelligence in Classifying Molecular Markers in Adult-Type Gliomas Using...

Adult-type gliomas are among the most prevalent and lethal primary central nervous system tumors, where prompt and accurate diagnosis is essential for maximizing survival prospects. Molecular classification, particularly the detection of isocitrate dehydrogenase (IDH) mutations and 1p/19q codeletions, has become crucial for accurate diagnosis and prognosis. Artificial intelligence (AI) has emerged as a promising adjunct in enhancing diagnostic accuracy using histopathological images. Existing reviews mostly focused on radiology rather than histopathology, and no comprehensive systematic review has specifically evaluated AI performance exclusively from histopathological images for detecting these two molecular markers.

This study aims to systematically evaluate the performance of AI models in detecting and classifying IDH mutation status and 1p/19q gene codeletion in adult-type gliomas using histopathological images.

A systematic review was conducted in accordance with PRISMA-DTA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses-Extension for Diagnostic Test Accuracy) guidelines. Seven databases (MEDLINE, PsycINFO, Embase, IEEE Xplore, ACM Digital Library, Scopus, and Google Scholar) were searched for studies published between 2015 and 2025. Eligible studies used AI models on histopathological images for molecular classification of adult-type gliomas and reported performance metrics. Study selection, data extraction, and risk of bias assessment using a modified QUADAS-2 (Quality Assessment of Diagnostic Accuracy Studies 2) tool were conducted independently by two reviewers. Extracted data were synthesized narratively.

A total of 2453 reports were identified, with 22 studies meeting the inclusion criteria. The pooled average accuracy, sensitivity, specificity, and area under the curve (AUC) across studies were 85.46%, 84.55%, 86.03%, and 86.53%, respectively. Hybrid models demonstrated the highest diagnostic performance (accuracy 92.80% and sensitivity 89.62%). In general, AI models that used multimodal data outperformed those that used unimodal data in terms of sensitivity (90.15% vs 84.31%) and AUC (88.93% vs 86.29%). Furthermore, models had a better overall performance in identifying IDH mutations than 1p/19q codeletions, with higher accuracy (86.13% vs 81.63%), specificity (86.61% vs 78.11%), and AUC (86.74% vs 85.15%). Unexpectedly, AI models designed for binary classification exhibited lower performance than those for multiclass classification in terms of both accuracy (91.98% vs 84.02%) and sensitivity (93.41% vs 80.18%). However, these differences should be interpreted as descriptive trends rather than statistically validated superiority, as formal between-group comparisons were not feasible.

AI models show strong potential as complementary tools for the molecular classification of adult-type gliomas using histopathology images, particularly for IDH mutation detection. However, these findings are constrained by the limited number of studies, the focus on adult-type gliomas, lack of meta-analysis, and restriction to English-language publications. While AI offers valuable diagnostic support, it must be integrated with expert clinical judgment. Future research should prioritize larger, more diverse datasets and multimodal AI frameworks and extend to other brain tumor types for broader applicability.