Background: Imaging genomics is a burgeoning field that seeks to connections between medical imaging and genomic features. It has been widely applied to explore heterogeneity and predict responsiveness and disease progression in cancer. This review aims to assess current applications and advancements of imaging genomics in cancer.
Methods: Literature on imaging genomics in cancer was retrieved and selected from PubMed, Web of Science, and Embase before July 2024. Detail information of articles, such as systems and imaging features, were extracted and analyzed. Citation information was extracted from Web of Science and Scopus. Additionally, a bibliometric analysis of the included studies was conducted using the Bibliometrix R package and VOSviewer.
Results: A total of 370 articles were included in the study. The annual growth rate of articles on imaging genomics in cancer is 24.88%. China (133) and the USA (107) were the most productive countries. The top 2 keywords plus were "survival" and "classification". The current research mainly focuses on the central nervous system (121) and the genitourinary system (110, including 44 breast cancer articles). Despite different systems utilizing different imaging modalities, more than half of the studies in each system employed radiomics features.
Conclusions: Publication databases provide data support for imaging genomics research. The development of artificial intelligence algorithms, especially in feature extraction and model construction, has significantly advanced this field. It is conducive to enhancing the related-models' interpretability. Nonetheless, challenges such as the sample size and the standardization of feature extraction and model construction must overcome. And the research trends revealed in this study will guide the development of imaging genomics in the future and contribute to more accurate cancer diagnosis and treatment in the clinic.
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http://dx.doi.org/10.1186/s40644-025-00841-9 | DOI Listing |
BMC Med Genomics
March 2025
Department of Urology, The First Hospital of Shanxi Medical University, Taiyuan, China.
Background: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of overt Cushing's syndrome (CS), which usually manifests as bilateral macronodular adrenal nodules and varying levels of cortisol secretion. Previous studies have shown that ARMC5 play a huge role in the occurrence of PBMAH, which may be inherited to family members and lead to more severe clinical symptoms. ARMC5 variants may be associated with meningiomas, which is also illustrated by our report.
View Article and Find Full Text PDFEur J Hum Genet
March 2025
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Pathogenic variants in the EMD gene cause X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1), typically presenting with joint contractures and skeletal muscle atrophy, followed by atrial arrhythmias, cardiac conduction defects, and atrial dilatation. Although an association with isolated dilated cardiomyopathy (DCM) has been suggested, evidence is currently insufficient to verify the gene-disease association. We investigated the causality of a missense variant, c.
View Article and Find Full Text PDFCureus
February 2025
Department of Oncology, Tawam Hospital, Al Ain, ARE.
Introduction: Trastuzumab deruxtecan (T-DXd) is a HER2-directed antibody-drug conjugate indicated for the treatment of unresectable or metastatic HER2-positive breast cancer in patients who have received a prior anti-HER2-based regimen. T-DXd is also indicated for unresectable or metastatic HER2-low breast cancer, following prior chemotherapy in the metastatic setting or recurrent disease within six months of adjuvant chemotherapy. This study aims to evaluate the efficacy and safety of T-DXd in treating HER2-positive and HER2-low metastatic breast cancer (MBC) patients in a real-world clinical setting.
View Article and Find Full Text PDFVet Radiol Ultrasound
March 2025
Life Science Facility, Clemson University Genomics and Bioinformatics Facility, Clemson, South Carolina, USA.
Longissimus muscles (LM) in sheep are important for animal scientists who study meat quality and translational researchers who study thoracolumbar spinal disease. Computed tomography (CT) is an established technique for characterizing paraspinal muscles in sheep; however, studies reporting reproducibility of CT measures using open-source software are lacking. The objectives of this prospective pilot study were to develop a standardized protocol for measuring LM area and density in sheep using CT and to determine the reproducibility for measurements.
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