# The Performance of Artificial Intelligence in Classifying Molecular Markers in Adult-Type Gliomas Using Histopathological Images: Systematic Review

**Authors:** Obada Almaabreh, Rukaya Al-Dafi, Aliya Tabassum, Ahmad Othman, Alaa Abd-alrazaq

PMC · DOI: 10.2196/78377 · Journal of Medical Internet Research · 2026-03-13

## TL;DR

This review evaluates how well AI models can detect molecular markers in brain tumors using histopathological images, finding strong potential but highlighting the need for more research.

## Contribution

The first systematic review to assess AI performance in detecting IDH and 1p/19q markers in adult-type gliomas using histopathological images.

## Key findings

- AI models achieved an average accuracy of 85.46% in detecting molecular markers in adult-type gliomas.
- Hybrid and multimodal AI models showed higher diagnostic performance compared to unimodal models.
- AI models performed better in identifying IDH mutations than 1p/19q codeletions.

## Abstract

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.

## Linked entities

- **Genes:** IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417]

## Full-text entities

- **Genes:** IDH2 (isocitrate dehydrogenase (NADP(+)) 2) [NCBI Gene 3418] {aka D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP}, ATRX (ATRX chromatin remodeler) [NCBI Gene 546] {aka JMS, MRX52, RAD54, RAD54L, XH2, XNP}, IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417] {aka HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC}, MGMT (O-6-methylguanine-DNA methyltransferase) [NCBI Gene 4255]
- **Diseases:** seizures (MESH:D012640), calcifications (MESH:D002114), Brain Tumor (MESH:D001932), Oligodendroglioma (MESH:D009837), metastatic (MESH:D000092182), Glioblastoma (MESH:D005909), Cancer (MESH:D009369), meningiomas (MESH:D008579), pituitary adenomas (MESH:D010911), Adult-Type Gliomas (MESH:D020339), Diffuse gliomas (MESH:D005910), headaches (MESH:D006261), CNS neoplasms (MESH:D016543), OA (MESH:D010003), PROBAST (MESH:D004195), ependymomas (MESH:D004806), Astrocytoma (MESH:D001254), nervous system tumors (MESH:D009423), schwannomas (MESH:D009442), infarcts (MESH:D007238), AI (MESH:C538142), nonneoplastic lesions (MESH:D009059), neuroectodermal tumors (MESH:D017599)
- **Chemicals:** hematoxylin (MESH:D006416), eosin (MESH:D004801), D-2-hydroxyglutarate (MESH:C019417), DBTA (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12986776/full.md

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12986776/full.md

## References

50 references — full list in the complete paper: https://tomesphere.com/paper/PMC12986776/full.md

---
Source: https://tomesphere.com/paper/PMC12986776