Singh Apurva, Chitalia Rhea, Kontos Despina
University of Pennsylvania, Department of Radiology, Philadelphia, Pennsylvania, United States.
J Med Imaging (Bellingham). 2021 May;8(3):031907. doi: 10.1117/1.JMI.8.3.031907. Epub 2021 Jun 18.
The field of radiogenomics largely focuses on developing imaging surrogates for genomic signatures and integrating imaging, genomic, and molecular data to develop combined personalized biomarkers for characterizing various diseases. Our study aims to highlight the current state-of-the-art and the role of radiogenomics in cancer research, focusing mainly on solid tumors, and is broadly divided into four sections. The first section reviews representative studies that establish the biologic basis of radiomic signatures using gene expression and molecular profiling information. The second section includes studies that aim to non-invasively predict molecular subtypes of tumors using radiomic signatures. The third section reviews studies that evaluate the potential to augment the performance of established prognostic signatures by combining complementary information encoded by radiomic and genomic signatures derived from cancer tumors. The fourth section includes studies that focus on ascertaining the biological significance of radiomic phenotypes. We conclude by discussing current challenges and opportunities in the field, such as the importance of coordination between imaging device manufacturers, regulatory organizations, health care providers, pharmaceutical companies, academic institutions, and physicians for the effective standardization of the results from radiogenomic signatures and for the potential use of these findings to improve precision care for cancer patients.
放射基因组学领域主要致力于开发基因组特征的影像替代指标，并整合影像、基因组和分子数据，以开发用于表征各种疾病的联合个性化生物标志物。我们的研究旨在突出放射基因组学的当前技术水平及其在癌症研究中的作用，主要聚焦于实体瘤，大致分为四个部分。第一部分回顾了利用基因表达和分子谱分析信息建立放射组学特征生物学基础的代表性研究。第二部分包括旨在利用放射组学特征对肿瘤分子亚型进行无创预测的研究。第三部分回顾了通过结合源自癌症肿瘤的放射组学和基因组特征所编码的互补信息来评估增强既定预后特征性能潜力的研究。第四部分包括专注于确定放射组学表型生物学意义的研究。我们通过讨论该领域当前的挑战和机遇来得出结论，比如成像设备制造商、监管机构、医疗保健提供者、制药公司、学术机构和医生之间进行协调对于有效规范放射基因组学特征结果以及将这些发现潜在用于改善癌症患者精准医疗的重要性。
