The field of cancer genomics is rapidly evolving and has led to the development of new therapies. Knowledge of commonly involved cellular pathways and genetic mutations is now essential for radiologists reading oncology cases. Radiogenomics is an emerging area of research that seeks to correlate imaging features with cancer genotypes. Such knowledge may extend the utility of multiparametric imaging to yield information regarding cancer prognosis and likelihood of therapeutic response. To date, only a handful of radiogenomics studies have been performed to evaluate solid tumors of the body, and there is much to explore. Before doing so, however, it behooves us to have adequate background knowledge of clinical cancer genomics to design meaningful radiogenomics projects and explore imaging phenotypes. Herein, an up-to-date, detailed overview is provided of well-known and common mutations of solid body tumors (such as human epithelial growth factor receptor 2, breast cancer susceptibility protein), newer genomic alterations with potential for clinical relevance, and a discussion of known related imaging findings, including existing radiogenomics data and other radiologic patterns of disease. RSNA, 2017 Online supplemental material is available for this article.
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http://dx.doi.org/10.1148/radiol.2017152224 | DOI Listing |
Pancreatology
December 2024
Department of Internal Medicine, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea. Electronic address:
Background: Endoscopic ultrasound-guided tissue acquisition (EUS-TA) has become essential for diagnosing pancreatic ductal adenocarcinoma (PDAC) and is increasingly utilized for comprehensive genome profiling (CGP) to advance precision medicine. This systematic review and meta-analysis assess the feasibility and clinical utility of EUS-TA samples for CGP in PDAC.
Methods: We conducted a thorough systematic literature search in PubMed, EMBASE, and the Cochrane Library up to October 2023.
Trends Immunol
December 2024
College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Dermatology, Chang Gung Memorial Hospital, Keelung, Taiwan; Department of Dermatology, Chang Gung Memorial Hospital, Linkou, Taiwan; Department of Dermatology, Chang Gung Memorial Hospital, Taipei, Taiwan; Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taiwan; Cancer Vaccine and Immune Cell Therapy Core Laboratory, Department of Medical Research, Chang Gung Memorial Hospital, Linkou, Taiwan; Chang Gung Immunology Consortium, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China; Xiamen Chang Gung Allergology Consortium, Xiamen Chang Gung Hospital, Xiamen, China; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Immune-Oncology Center of Excellence, Chang Gung Memorial Hospital, Linkou, Taiwan; Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, Keelung, Taiwan; Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou, Taiwan; School of Medicine, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Generalized pustular psoriasis (GPP) is a rare human autoinflammatory disorder with life-threatening systemic effects. Keratinocyte-derived interleukin (IL)-36 signaling has been identified as a key mediator of immune response in the skin of affected individuals. Recognition of various mutations along the IL-36 axis and the downstream nuclear transcription factor κB (NF-κB) signaling have established GPP as genetically, immunologically, and histopathologically distinct and amenable to immunomodulation, which is epitomized by the recent success of IL-36 antagonism.
View Article and Find Full Text PDFWorld Neurosurg
December 2024
Department of Pathology, Huashan Hospital, Fudan University, Shanghai 200040, China.
Background: The presence of isocitrate dehydrogenase (IDH) mutations and 1p/19q codeletion significantly influences the diagnosis and prognosis of patients with lower-grade gliomas (LGGs). The ability to predict these molecular signatures preoperatively can inform surgical strategies. This study sought to establish an interpretable imaging feature set for predicting molecular signatures and overall survival in LGGs.
View Article and Find Full Text PDFAm J Pathol
December 2024
Department of Computer Science, Faculty of Engineering Sciences, University College London, Gower Street, London, WC1E 6BT, United Kingdom.
Understanding the tumor hypoxic microenvironment is crucial for grasping tumor biology, clinical progression, and treatment responses. This study presents a novel application of AI in computational histopathology to evaluate hypoxia in breast cancer. Weakly Supervised Deep Learning (WSDL) models can accurately detect morphological changes associated with hypoxia in routine Hematoxylin and Eosin (H&E) whole slide images (WSI).
View Article and Find Full Text PDFCancer Lett
December 2024
Department of Urology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310006, China; Cancer Center, Zhejiang University, Hangzhou, Zhejiang, 310058, China. Electronic address:
R-loops are critical structures that play pivotal roles in regulating genomic stability and modulating gene expression. This study investigates the interactions between the 5-methylcytosine (mC) methyltransferase NOP2/Sun RNA methyltransferase 2 (NSUN2) and R-loops in the transcriptional dynamics and damage repair process of bladder cancer (BCa) cells. We observed markedly elevated levels of R-loops in BCa cells relative to normal urothelial cells.
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