Accurate, noninvasive glioma characterization is crucial for effective clinical management. Traditional methods, dependent on invasive tissue sampling, often fail to capture the spatial heterogeneity of the tumor. While deep learning has improved segmentation and molecular profiling, few approaches simultaneously integrate tumor morphology and molecular features. Foundation deep learning models, which learn robust, task-agnostic representations from large-scale datasets, hold great promise but remain underutilized in glioma imaging biomarkers. We propose the Multi-Task SWIN-UNETR (MTS-UNET) model, a novel foundation-based framework built on the BrainSegFounder model, pretrained on large-scale neuroimaging data. MTS-UNET simultaneously performs glioma segmentation, histological grading, and molecular subtyping (IDH mutation and 1p/19q co-deletion). It incorporates two key modules: Tumor-Aware Feature Encoding (TAFE) for multi-scale, tumor-focused feature extraction and Cross-Modality Differential (CMD) for highlighting subtle T2-FLAIR mismatch signals associated with IDH mutation. The model was trained and validated on a diverse, multi-center cohort of 2,249 glioma patients from seven public datasets. MTS-UNET achieved a mean Dice score of 84% for segmentation, along with AUCs of 90.58% for IDH mutation, 69.22% for 1p/19q co-deletion prediction, and 87.54% for grading, significantly outperforming baseline models (p<=0.05). Ablation studies validated the essential contributions of the TAFE and CMD modules and demonstrated the robustness of the framework. The foundation-based MTS-UNET model effectively integrates tumor segmentation with multi-level classification, exhibiting strong generalizability across diverse MRI datasets. This framework shows significant potential for advancing noninvasive, personalized glioma management by improving predictive accuracy and interpretability.

Gliomas, the most common primary brain tumors, show high heterogeneity in histological and molecular characteristics. Accurate molecular profiling, like isocitrate dehydrogenase (IDH) mutation and 1p/19q codeletion, is critical for diagnosis, treatment, and prognosis. This review evaluates MRI-based deep learning (DL) models' efficacy in predicting these biomarkers. Following PRISMA guidelines, we systematically searched major databases (PubMed, Scopus, Ovid, and Web of Science) up to February 2024, screening studies that utilized DL to predict IDH and 1p/19q codeletion status from MRI data of glioma patients. We assessed the quality and risk of bias using the radiomics quality score and QUADAS-2 tool. Our meta-analysis used a bivariate model to compute pooled sensitivity, specificity, and meta-regression to assess inter-study heterogeneity. Of the 565 articles, 57 were selected for qualitative synthesis, and 52 underwent meta-analysis. The pooled estimates showed high diagnostic performance, with validation sensitivity, specificity, and area under the curve (AUC) of 0.84 [prediction interval (PI): 0.67-0.93, I2=51.10%, p < 0.05], 0.87 [PI: 0.49-0.98, I2=82.30%, p < 0.05], and 0.89 for IDH prediction, and 0.76 [PI: 0.28-0.96, I2=77.60%, p < 0.05], 0.85 [PI: 0.49-0.97, I2=80.30%, p < 0.05], and 0.90 for 1p/19q prediction, respectively. Meta-regression analyses revealed significant heterogeneity influenced by glioma grade, data source, inclusion of non-radiomics data, MRI sequences, segmentation and feature extraction methods, and validation techniques. DL models demonstrate strong potential in predicting molecular biomarkers from MRI scans, with significant variability influenced by technical and clinical factors. Thorough external validation is necessary to increase clinical utility.

Radiomics is a relatively new field which utilises automatically identified features from radiological scans. It has found a widespread application, particularly in oncology because many of the important oncological biomarkers are not visible to the naked eye. The recent advent of big data, including in medical imaging, and the development of new ML techniques brought the possibility of faster and more accurate oncological diagnosis. Furthermore, standardised mathematical feature extraction based on radiomics helps to eliminate possible radiologist bias. This paper reviews the recent development in the oncological use of MRI radiomic features. It focuses on the identification of the isocitrate dehydrogenase (IDH) mutation status, which is an important biomarker for the diagnosis of glioblastoma and grade IV astrocytoma.

In recent years, the diagnosis of gliomas has become increasingly complex. Analysis of glioma histopathology images using artificial intelligence (AI) offers new opportunities to support diagnosis and outcome prediction. To give an overview of the current state of research, this review examines 70 publicly available research studies that have proposed AI-based methods for whole-slide histopathology images of human gliomas, covering the diagnostic tasks of subtyping (16/70), grading (23/70), molecular marker prediction (13/70), and survival prediction (27/70). All studies were reviewed with regard to methodological aspects as well as clinical applicability. It was found that the focus of current research is the assessment of hematoxylin and eosin-stained tissue sections of adult-type diffuse gliomas. The majority of studies (49/70) are based on the publicly available glioblastoma and low-grade glioma datasets from The Cancer Genome Atlas (TCGA) and only a few studies employed other datasets in isolation (10/70) or in addition to the TCGA datasets (11/70). Current approaches mostly rely on convolutional neural networks (53/70) for analyzing tissue at 20x magnification (30/70). A new field of research is the integration of clinical data, omics data, or magnetic resonance imaging (27/70). So far, AI-based methods have achieved promising results, but are not yet used in real clinical settings. Future work should focus on the independent validation of methods on larger, multi-site datasets with high-quality and up-to-date clinical and molecular pathology annotations to demonstrate routine applicability.

Molecular classification has transformed the management of brain tumors by enabling more accurate prognostication and personalized treatment. However, timely molecular diagnostic testing for patients with brain tumors is limited, complicating surgical and adjuvant treatment and obstructing clinical trial enrollment. In this study, we developed DeepGlioma, a rapid ($< 90$ seconds), artificial-intelligence-based diagnostic screening system to streamline the molecular diagnosis of diffuse gliomas. DeepGlioma is trained using a multimodal dataset that includes stimulated Raman histology (SRH); a rapid, label-free, non-consumptive, optical imaging method; and large-scale, public genomic data. In a prospective, multicenter, international testing cohort of patients with diffuse glioma ($n=153$) who underwent real-time SRH imaging, we demonstrate that DeepGlioma can predict the molecular alterations used by the World Health Organization to define the adult-type diffuse glioma taxonomy (IDH mutation, 1p19q co-deletion and ATRX mutation), achieving a mean molecular classification accuracy of $93.3\pm 1.6\%$. Our results represent how artificial intelligence and optical histology can be used to provide a rapid and scalable adjunct to wet lab methods for the molecular screening of patients with diffuse glioma.