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结直肠癌精准医学中的分子诊断:现状与未来展望

Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective.

作者信息

Chen Guoli, Yang Zhaohai, Eshleman James R, Netto George J, Lin Ming-Tseh

机构信息

Department of Pathology, Penn State College of Medicine, Milton S. Hershey Medical Center, Hershey, PA, USA.

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Biomed Res Int. 2016;2016:9850690. doi: 10.1155/2016/9850690. Epub 2016 Sep 6.

Abstract

Precision medicine, a concept that has recently emerged and has been widely discussed, emphasizes tailoring medical care to individuals largely based on information acquired from molecular diagnostic testing. As a vital aspect of precision cancer medicine, targeted therapy has been proven to be efficacious and less toxic for cancer treatment. Colorectal cancer (CRC) is one of the most common cancers and among the leading causes for cancer related deaths in the United States and worldwide. By far, CRC has been one of the most successful examples in the field of precision cancer medicine, applying molecular tests to guide targeted therapy. In this review, we summarize the current guidelines for anti-EGFR therapy, revisit the roles of pathologists in an era of precision cancer medicine, demonstrate the transition from traditional "one test-one drug" assays to multiplex assays, especially by using next-generation sequencing platforms in the clinical diagnostic laboratories, and discuss the future perspectives of tumor heterogeneity associated with anti-EGFR resistance and immune checkpoint blockage therapy in CRC.

摘要

精准医学是一个最近出现并得到广泛讨论的概念,它主要强调根据从分子诊断测试中获取的信息为个体量身定制医疗护理。作为精准癌症医学的一个重要方面,靶向治疗已被证明在癌症治疗中有效且毒性较小。结直肠癌(CRC)是最常见的癌症之一,也是美国和全球癌症相关死亡的主要原因之一。到目前为止,CRC一直是精准癌症医学领域最成功的例子之一,应用分子检测来指导靶向治疗。在本综述中,我们总结了当前抗表皮生长因子受体(EGFR)治疗的指南,重新审视病理学家在精准癌症医学时代的作用,展示从传统的“一测一药”检测到多重检测的转变,特别是在临床诊断实验室中使用新一代测序平台,并讨论与CRC中抗EGFR耐药性和免疫检查点阻断治疗相关的肿瘤异质性的未来前景。

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