From the Joint Department of Medical Imaging, University Medical Imaging Toronto, University Health Network, University of Toronto, 585 University Ave, Toronto, ON, Canada M5G 2N2 (E.M.S., A.J., M.A.H., X.L.); Division of Diagnostic Imaging, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel (M.K.); Department of Radiology, The Christie NHS Trust, Manchester, England (B.M.M.); Department of Radiology, Breast Imaging Service, Memorial Sloan-Kettering Cancer Center, Weill Medical College of Cornell University, New York, NY (R.L.G., K.P.); Center for Molecular Imaging, Department of Radiology, University of Michigan, Ann Arbor, Mich (G.L.); Lunenfeld Tanenbaum Research Institute, Sinai Health System, Mount Sinai Hospital, Toronto, Ontario, Canada (M.A.H.); and Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass (A.B.S.).
Radiol Imaging Cancer. 2023 Nov;5(6):e220153. doi: 10.1148/rycan.220153.
Ongoing discoveries in cancer genomics and epigenomics have revolutionized clinical oncology and precision health care. This knowledge provides unprecedented insights into tumor biology and heterogeneity within a single tumor, among primary and metastatic lesions, and among patients with the same histologic type of cancer. Large-scale genomic sequencing studies also sparked the development of new tumor classifications, biomarkers, and targeted therapies. Because of the central role of imaging in cancer diagnosis and therapy, radiologists need to be familiar with the basic concepts of genomics, which are now becoming the new norm in oncologic clinical practice. By incorporating these concepts into clinical practice, radiologists can make their imaging interpretations more meaningful and specific, facilitate multidisciplinary clinical dialogue and interventions, and provide better patient-centric care. This review article highlights basic concepts of genomics and epigenomics, reviews the most common genetic alterations in cancer, and discusses the implications of these concepts on imaging by organ system in a case-based manner. This information will help stimulate new innovations in imaging research, accelerate the development and validation of new imaging biomarkers, and motivate efforts to bring new molecular and functional imaging methods to clinical radiology. Oncology, Cancer Genomics, Epignomics, Radiogenomics, Imaging Markers © RSNA, 2023.
癌症基因组学和表观基因组学的不断发现彻底改变了临床肿瘤学和精准医疗。这些知识为肿瘤生物学以及单个肿瘤内、原发性和转移性病变之间以及具有相同组织学类型癌症的患者之间的异质性提供了前所未有的见解。大规模基因组测序研究也激发了新的肿瘤分类、生物标志物和靶向治疗的发展。由于影像学在癌症诊断和治疗中的核心作用,放射科医生需要熟悉基因组学的基本概念,这些概念现在正成为肿瘤临床实践的新标准。通过将这些概念纳入临床实践,放射科医生可以使他们的影像学解释更有意义和具体,促进多学科临床对话和干预,并为患者提供更好的以患者为中心的护理。本文综述了基因组学和表观基因组学的基本概念,回顾了癌症中最常见的遗传改变,并以案例为基础讨论了这些概念对各器官系统影像学的影响。这些信息将有助于激发影像学研究的新创新,加速新的影像学生物标志物的开发和验证,并激励努力将新的分子和功能影像学方法引入临床放射学。肿瘤学,癌症基因组学,表观基因组学,放射组学,影像标志物 ©RSNA,2023 年。