Radiology Derpartment, Herlev og Gentofte Hospital, Borgmester Ib Juuls Vej 17, Opgang 4, 4.Etage, E2, 2730 Herlev, Denmark.
Freshage Research Group, Department of Physiology, Faculty of Medicine, University of Valencia, 46010 Valencia, Spain.
Int J Mol Sci. 2022 Jun 10;23(12):6504. doi: 10.3390/ijms23126504.
(1) Background: Radiogenomics is motivated by the concept that biomedical images contain information that reflects underlying pathophysiology. This review focused on papers that used genetics to validate their radiomics models and outcomes and assess their contribution to this emerging field. (2) Methods: All original research with the words radiomics and genomics in English and performed in humans up to 31 January 2022, were identified on Medline and Embase. The quality of the studies was assessed with Radiomic Quality Score (RQS) and the Cochrane recommendation for diagnostic accuracy study Quality Assessment 2. (3) Results: 45 studies were included in our systematic review, and more than 50% were published in the last two years. The studies had a mean RQS of 12, and the studied tumors were very diverse. Up to 83% investigated the prognosis as the main outcome, with the rest focusing on response to treatment and risk assessment. Most applied either transcriptomics (54%) and/or genetics (35%) for genetic validation. (4) Conclusions: There is enough evidence to state that new science has emerged, focusing on establishing an association between radiological features and genomic/molecular expression to explain underlying disease mechanisms and enhance prognostic, risk assessment, and treatment response radiomics models in cancer patients.
(1) 背景：放射组学的概念是基于这样一种理念，即生物医学图像中包含反映潜在病理生理学的信息。本综述重点关注了那些利用遗传学来验证其放射组学模型和结果，并评估其对这一新兴领域贡献的论文。
(2) 方法：在 Medline 和 Embase 上搜索了截至 2022 年 1 月 31 日以英文发表的所有与放射组学和基因组学相关的原创研究，这些研究均在人类中进行。使用放射组学质量评分（RQS）和 Cochrane 诊断准确性研究质量评估 2 对研究质量进行评估。
(3) 结果：我们的系统综述共纳入 45 项研究，其中超过 50%的研究是在过去两年内发表的。这些研究的平均 RQS 为 12，研究的肿瘤种类非常多样化。高达 83%的研究将预后作为主要结局，其余研究则集中在治疗反应和风险评估上。大多数研究应用了转录组学（54%）和/或遗传学（35%）来进行遗传验证。
(4) 结论：有足够的证据表明，新的科学已经出现，其重点是建立放射学特征与基因组/分子表达之间的关联，以解释潜在的疾病机制，并增强癌症患者的预后、风险评估和治疗反应放射组学模型。
