This comprehensive review explores the pivotal role of radiotherapy in cancer treatment, emphasizing the diverse applications of genetic profiling. The review highlights genetic markers for predicting radiation toxicity, enabling personalized treatment planning. It delves into the impact of genetic profiling on radiotherapy strategies across various cancer types, discussing research findings related to treatment response, prognosis, and therapeutic resistance. The integration of genetic profiling is shown to transform cancer treatment paradigms, offering insights into personalized radiotherapy regimens and guiding decisions in cases where standard protocols may fall short. Ultimately, the review underscores the potential of genetic profiling to enhance patient outcomes and advance precision medicine in oncology.

BACKGROUND: Radiomics offers the potential to predict oncological outcomes from pre-operative imaging in order to identify \'high risk\' patients at increased risk of recurrence. The application of radiomics in predicting disease recurrence provides tailoring of therapeutic strategies. We aim to comprehensively assess the existing literature regarding the current role of radiomics as a predictor of disease recurrence in gastric cancer.
METHODS: A systematic search was conducted in Medline, EMBASE, and Web of Science databases. Inclusion criteria encompassed retrospective and prospective studies investigating the use of radiomics to predict post-operative recurrence in ovarian cancer. Study quality was assessed using the QUADAS-2 and Radiomics Quality Score tools.
RESULTS: Nine studies met the inclusion criteria, involving a total of 6,662 participants. Radiomic-based nomograms demonstrated consistent performance in predicting disease recurrence, as evidenced by satisfactory area under the receiver operating characteristic curve values (AUC range 0.72 - 1). The pooled AUCs calculated using the inverse-variance method for both the training and validation datasets were 0.819 and 0.789 respectively CONCLUSION: Our review provides good evidence supporting the role of radiomics as a predictor of post-operative disease recurrence in gastric cancer. Included studies noted good performance in predicting their primary outcome. Radiomics may enhance personalised medicine by tailoring treatment decision based on predicted prognosis.

UNASSIGNED: Arteriovenous malformations (AVMs) are rare vascular anomalies involving a disorganization of arteries and veins with no intervening capillaries. In the past 10 years, radiomics and machine learning (ML) models became increasingly popular for analyzing diagnostic medical images. The goal of this review was to provide a comprehensive summary of current radiomic models being employed for the diagnostic, therapeutic, prognostic, and predictive outcomes in AVM management.
UNASSIGNED: A systematic literature review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines, in which the PubMed and Embase databases were searched using the following terms: (cerebral OR brain OR intracranial OR central nervous system OR spine OR spinal) AND (AVM OR arteriovenous malformation OR arteriovenous malformations) AND (radiomics OR radiogenomics OR machine learning OR artificial intelligence OR deep learning OR computer-aided detection OR computer-aided prediction OR computer-aided treatment decision). A radiomics quality score (RQS) was calculated for all included studies.
UNASSIGNED: Thirteen studies were included, which were all retrospective in nature. Three studies (23%) dealt with AVM diagnosis and grading, 1 study (8%) gauged treatment response, 8 (62%) predicted outcomes, and the last one (8%) addressed prognosis. No radiomics model had undergone external validation. The mean RQS was 15.92 (range: 10-18).
UNASSIGNED: We demonstrated that radiomics is currently being studied in different facets of AVM management. While not ready for clinical use, radiomics is a rapidly emerging field expected to play a significant future role in medical imaging. More prospective studies are warranted to determine the role of radiomics in the diagnosis, prediction of comorbidities, and treatment selection in AVM management.

Ovarian cancer is associated with high cancer-related mortality rate attributed to late-stage diagnosis, limited treatment options, and frequent disease recurrence. As a result, careful patient selection is important especially in setting of radical surgery. Radiomics is an emerging field in medical imaging, which may help provide vital prognostic evaluation and help patient selection for radical treatment strategies. This systematic review aims to assess the role of radiomics as a predictor of disease recurrence in ovarian cancer. A systematic search was conducted in Medline, EMBASE, and Web of Science databases. Studies meeting inclusion criteria investigating the use of radiomics to predict post-operative recurrence in ovarian cancer were included in our qualitative analysis. Study quality was assessed using the QUADAS-2 and Radiomics Quality Score tools. Six retrospective studies met the inclusion criteria, involving a total of 952 participants. Radiomic-based signatures demonstrated consistent performance in predicting disease recurrence, as evidenced by satisfactory area under the receiver operating characteristic curve values (AUC range 0.77-0.89). Radiomic-based signatures appear to good prognosticators of disease recurrence in ovarian cancer as estimated by AUC. The reviewed studies consistently reported the potential of radiomic features to enhance risk stratification and personalise treatment decisions in this complex cohort of patients. Further research is warranted to address limitations related to feature reliability, workflow heterogeneity, and the need for prospective validation studies.

UNASSIGNED: Immunotherapy is an effective \"precision medicine\" treatment for several cancers. Imaging signatures of the underlying genome (radiogenomics) in glioblastoma patients may serve as preoperative biomarkers of the tumor-host immune apparatus. Validated biomarkers would have the potential to stratify patients during immunotherapy clinical trials, and if trials are beneficial, facilitate personalized neo-adjuvant treatment. The increased use of whole genome sequencing data, and the advances in bioinformatics and machine learning make such developments plausible. We performed a systematic review to determine the extent of development and validation of immune-related radiogenomic biomarkers for glioblastoma.
UNASSIGNED: A systematic review was performed following PRISMA guidelines using the PubMed, Medline, and Embase databases. Qualitative analysis was performed by incorporating the QUADAS 2 tool and CLAIM checklist. PROSPERO registered: CRD42022340968. Extracted data were insufficiently homogenous to perform a meta-analysis.
UNASSIGNED: Nine studies, all retrospective, were included. Biomarkers extracted from magnetic resonance imaging volumes of interest included apparent diffusion coefficient values, relative cerebral blood volume values, and image-derived features. These biomarkers correlated with genomic markers from tumor cells or immune cells or with patient survival. The majority of studies had a high risk of bias and applicability concerns regarding the index test performed.
UNASSIGNED: Radiogenomic immune biomarkers have the potential to provide early treatment options to patients with glioblastoma. Targeted immunotherapy, stratified by these biomarkers, has the potential to allow individualized neo-adjuvant precision treatment options in clinical trials. However, there are no prospective studies validating these biomarkers, and interpretation is limited due to study bias with little evidence of generalizability.

BACKGROUND: Accurate and non-invasive estimation of MGMT promoter methylation status in glioblastoma (GBM) patients is of paramount clinical importance, as it is a predictive biomarker associated with improved overall survival (OS). In response to the clinical need, recent studies have focused on the development of non-invasive artificial intelligence (AI)-based methods for MGMT estimation. In this systematic review, we not only delve into the technical aspects of these AI-driven MGMT estimation methods but also emphasize their profound clinical implications. Specifically, we explore the potential impact of accurate non-invasive MGMT estimation on GBM patient care and treatment decisions.
METHODS: Employing a PRISMA search strategy, we identified 33 relevant studies from reputable databases, including PubMed, ScienceDirect, Google Scholar, and IEEE Explore. These studies were comprehensively assessed using 21 diverse attributes, encompassing factors such as types of imaging modalities, machine learning (ML) methods, and cohort sizes, with clear rationales for attribute scoring. Subsequently, we ranked these studies and established a cutoff value to categorize them into low-bias and high-bias groups.
RESULTS: By analyzing the \'cumulative plot of mean score\' and the \'frequency plot curve\' of the studies, we determined a cutoff value of 6.00. A higher mean score indicated a lower risk of bias, with studies scoring above the cutoff mark categorized as low-bias (73%), while 27% fell into the high-bias category.
CONCLUSIONS: Our findings underscore the immense potential of AI-based machine learning (ML) and deep learning (DL) methods in non-invasively determining MGMT promoter methylation status. Importantly, the clinical significance of these AI-driven advancements lies in their capacity to transform GBM patient care by providing accurate and timely information for treatment decisions. However, the translation of these technical advancements into clinical practice presents challenges, including the need for large multi-institutional cohorts and the integration of diverse data types. Addressing these challenges will be critical in realizing the full potential of AI in improving the reliability and accessibility of MGMT estimation while lowering the risk of bias in clinical decision-making.

The classification of diffuse gliomas has undergone substantial changes over the last decade, starting with the 2016 World Health Organisation (WHO) classification, which introduced the importance of molecular markers for glioma diagnosis, in particular, isocitrate dehydrogenase (IDH) status and 1p/19-codeletion. This has spurred research into the correlation of imaging features with the key molecular markers, known as \"radiogenomics\" or \"imaging genomics\". Radiogenomics has a variety of possible benefits, including supplementing immunohistochemistry to refine the histological diagnosis and overcoming some of the limitations of the histological assessment. The recent 2021 WHO classification has introduced a variety of changes and continues the trend of increasing the importance of molecular markers in the diagnosis. Key changes include a formal distinction between adult- and paediatric-type diffuse gliomas, the addition of new diagnostic entities, refinements to the nomenclature for IDH-mutant (IDHmut) and IDH-wildtype (IDHwt) gliomas, a shift to grading within tumour types, and the addition of molecular markers as a determinant of tumour grade in addition to phenotype. These changes provide both challenges and opportunities for the field of radiogenomics, which are discussed in this review. This includes implications for the interpretation of research performed prior to the 2021 classification, based on the shift to first classifying gliomas based on genotype ahead of grade, as well as opportunities for future research and priorities for clinical integration.

The purpose of this systematic review and meta-analysis was to assess the quality and diagnostic accuracy of MRI-based radiomics for predicting Ki-67 expression in breast cancer.
A systematic literature search was performed to find relevant studies published in different databases, including PubMed, Web of Science, and Embase up until March 10, 2023. All papers were independently evaluated for eligibility by two reviewers. Studies that matched research questions and provided sufficient data for quantitative synthesis were included in the systematic review and meta-analysis, respectively. The quality of the articles was assessed using Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) and Radiomics Quality Score (RQS) tools. The predictive value of MRI-based radiomics for Ki-67 antigen in patients with breast cancer was assessed using pooled sensitivity (SEN), specificity, and area under the curve (AUC). Meta-regression was performed to explore the cause of heterogeneity. Different covariates were used for subgroup analysis.
31 studies were included in the systematic review; among them, 21 reported sufficient data for meta-analysis. 20 training cohorts and five validation cohorts were pooled separately. The pooled sensitivity, specificity, and AUC of MRI-based radiomics for predicting Ki-67 expression in training cohorts were 0.80 [95% CI, 0.73-0.86], 0.82 [95% CI, 0.78-0.86], and 0.88 [95%CI, 0.85-0.91], respectively. The corresponding values for validation cohorts were 0.81 [95% CI, 0.72-0.87], 0.73 [95% CI, 0.62-0.82], and 0.84 [95%CI, 0.80-0.87], respectively. Based on QUADAS-2, some risks of bias were detected for reference standard and flow and timing domains. However, the quality of the included article was acceptable. The mean RQS score of the included articles was close to 6, corresponding to 16.6% of the maximum possible score. Significant heterogeneity was observed in pooled sensitivity and specificity of training cohorts (I2 > 75%). We found that using deep learning radiomic methods, magnetic field strength (3 T vs. 1.5 T), scanner manufacturer, region of interest structure (2D vs. 3D), route of tissue sampling, Ki-67 cut-off, logistic regression for model construction, and LASSO for feature reduction as well as PyRadiomics software for feature extraction had a great impact on heterogeneity according to our joint model analysis. Diagnostic performance in studies that used deep learning-based radiomics and multiple MRI sequences (e.g., DWI+DCE) was slightly higher. In addition, radiomic features derived from DWI sequences performed better than contrast-enhanced sequences in terms of specificity and sensitivity. No publication bias was found based on Deeks\' funnel plot. Sensitivity analysis showed that eliminating every study one by one does not impact overall results.
This meta-analysis showed that MRI-based radiomics has a good diagnostic accuracy in differentiating breast cancer patients with high Ki-67 expression from low-expressing groups. However, the sensitivity and specificity of these methods still do not surpass 90%, restricting them from being used as a supplement to current pathological assessments (e.g., biopsy or surgery) to predict Ki-67 expression accurately.

Magnetic resonance imaging (MRI) is an indispensable, routine technique that provides morphological and functional imaging sequences. MRI can potentially capture tumor biology and allow for longitudinal evaluation of head and neck squamous cell carcinoma (HNSCC). This systematic review and meta-analysis evaluates the ability of MRI to predict tumor biology in primary HNSCC. Studies were screened, selected, and assessed for quality using appropriate tools according to the PRISMA criteria. Fifty-eight articles were analyzed, examining the relationship between (functional) MRI parameters and biological features and genetics. Most studies focused on HPV status associations, revealing that HPV-positive tumors consistently exhibited lower ADCmean (SMD: 0.82; p < 0.001) and ADCminimum (SMD: 0.56; p < 0.001) values. On average, lower ADCmean values are associated with high Ki-67 levels, linking this diffusion restriction to high cellularity. Several perfusion parameters of the vascular compartment were significantly associated with HIF-1α. Analysis of other biological factors (VEGF, EGFR, tumor cell count, p53, and MVD) yielded inconclusive results. Larger datasets with homogenous acquisition are required to develop and test radiomic-based prediction models capable of capturing different aspects of the underlying tumor biology. Overall, our study shows that rapid and non-invasive characterization of tumor biology via MRI is feasible and could enhance clinical outcome predictions and personalized patient management for HNSCC.

BACKGROUND: Recent advancements in computing power and state-of-the-art algorithms have helped in more accessible and accurate diagnosis of numerous diseases. In addition, the development of de novo areas in imaging science, such as radiomics and radiogenomics, have been adding more to personalize healthcare to stratify patients better. These techniques associate imaging phenotypes with the related disease genes. Various imaging modalities have been used for years to diagnose breast cancer. Nonetheless, digital breast tomosynthesis (DBT), a state-of-the-art technique, has produced promising results comparatively. DBT, a 3D mammography, is replacing conventional 2D mammography rapidly. This technological advancement is key to AI algorithms for accurately interpreting medical images.
OBJECTIVE: This paper presents a comprehensive review of deep learning (DL), radiomics and radiogenomics in breast image analysis. This review focuses on DBT, its extracted synthetic mammography (SM), and full-field digital mammography (FFDM). Furthermore, this survey provides systematic knowledge about DL, radiomics, and radiogenomics for beginners and advanced-level researchers.
RESULTS: A total of 500 articles were identified, with 30 studies included as the set criteria. Parallel benchmarking of radiomics, radiogenomics, and DL models applied to the DBT images could allow clinicians and researchers alike to have greater awareness as they consider clinical deployment or development of new models. This review provides a comprehensive guide to understanding the current state of early breast cancer detection using DBT images.
CONCLUSIONS: Using this survey, investigators with various backgrounds can easily seek interdisciplinary science and new DL, radiomics, and radiogenomics directions towards DBT.