精准医学时代甲状腺结节危险分层的“超声-细胞-基因”组学

“Ultrasound-cell-gene”omics for the risk stratification of thyroid nodules in the era of precision medicine

甲状腺结节是危害人群健康的常见疾病,过度诊疗和诊疗不足的风险同时存在。如何有效地筛检出甲状腺癌患者,并对甲状腺癌的侵袭性进行精确分层,是当前亟待解决的关键临床和科学问题。"超声-细胞-基因"组学概念提出,有针对性地解决了当前超声灵敏度高而特异度低、细胞学检查存在大量无法诊断或不确定诊断结果、术前基因检测靶点单一且无法区分滤泡性肿瘤等难题。可以预期,"超声-细胞-基因"组学体系的建立和不断完善,将逐步使甲状腺结节危险分层方法实现早期、精确、直观、量化、易行的目标,同时也将为各种新型诊疗方案的选择提供重要依据。

Thyroid nodule has been a common disease that endangers the health of population,and clinically the risks of excessive and insufficient diagnosis and treatment are usually coexisting.How to correctly screen out patients with thyroid cancer and precisely stratify the invasiveness of thyroid cancer is the clinical and scientific key issue that needs to be solved urgently.The introduction of the concept of"ultrasound-cell-gene"omics has solved many clinical difficult issues,as this concept aims especially at the following present clinical challenges:for thyroid nodules ultrasonography is of high sensitivity but low specificity,a large number of cases can not be definitely diagnosed by cytology,the preoperative gene detection is usually just testing a single target spot,based on which the follicular tumors can not be distinguished,etc.It can be reasonably and optimistically expected that the establishment and continuous improvement of the"ultrasound-cell-gene"omics system will gradually enable the thyroid nodule risk stratification method to achieve the goals of early,precise,intuitive,quantitative and easy to implement diagnosis,and it will also provide an important guidance for the selection of various new diagnosis and treatment schemes.(J Intervent Radiol,2020,29:963-967)