Antonia R. Sepulveda, Columbia University, New York, NY; Stanley R. Hamilton, Scott E. Kopetz, and Bruce D. Minsky, University of Texas MD Anderson Cancer Center, Houston, TX; Carmen J. Allegra, University of Florida Medical Center, Gainesville, FL; Wayne Grody, UCLA Medical Center, Los Angeles, CA; Allison M. Cushman-Vokoun, University of Nebraska Medical Center, Omaha, NE; William K. Funkhouser, University of North Carolina School of Medicine, Chapel Hill, NC; Christopher Lieu, University of Colorado Denver School of Medicine, Denver, CO; Noralane M. Lindor, Mayo Clinic, Scottsdale, AZ; Federico A. Monzon, Castle Biosciences, Friendswood, TX; Daniel J. Sargent, Mayo Clinic, Rochester, MN; Veena M. Singh, Biocept, San Diego, CA; Joseph Willis, Case Western Reserve University, Cleveland, OH; Jennifer Clark, American Society for Clinical Pathology, Washington, DC; Carol Colasacco and Christina B. Ventura, College of American Pathologists, Northfield, IL; R. Bryan Rumble, American Society of Clinical Oncology, Alexandria, VA; Robyn Temple-Smolkin, Association for Molecular Pathology, Bethesda, MD; and Jan A. Nowak, Roswell Park Cancer Institute, Buffalo, NY.
J Clin Oncol. 2017 May 1;35(13):1453-1486. doi: 10.1200/JCO.2016.71.9807. Epub 2017 Feb 6.
Purpose Molecular testing of colorectal cancers (CRCs) to improve patient care and outcomes of targeted and conventional therapies has been the center of many recent studies, including clinical trials. Evidence-based recommendations for the molecular testing of CRC tissues to guide epidermal growth factor receptor (EGFR) -targeted therapies and conventional chemotherapy regimens are warranted in clinical practice. The purpose of this guideline is to develop evidence-based recommendations to help establish standard molecular biomarker testing for CRC through a systematic review of the literature. Methods The American Society for Clinical Pathology (ASCP), College of American Pathologists (CAP), Association for Molecular Pathology (AMP), and the American Society of Clinical Oncology (ASCO) convened an Expert Panel to develop an evidence-based guideline to help establish standard molecular biomarker testing, guide targeted therapies, and advance personalized care for patients with CRC. A comprehensive literature search that included over 4,000 articles was conducted to gather data to inform this guideline. Results Twenty-one guideline statements (eight recommendations, 10 expert consensus opinions and three no recommendations) were established. Recommendations Evidence supports mutational testing for genes in the EGFR signaling pathway, since they provide clinically actionable information as negative predictors of benefit to anti-EGFR monoclonal antibody therapies for targeted therapy of CRC. Mutations in several of the biomarkers have clear prognostic value. Laboratory approaches to operationalize molecular testing for predictive and prognostic molecular biomarkers involve selection of assays, type of specimens to be tested, timing of ordering of tests and turnaround time for testing results. Additional information is available at: www.asco.org/CRC-markers-guideline and www.asco.org/guidelineswiki.
目的 为了改善靶向和常规治疗的患者护理和效果，对结直肠癌（CRC）进行分子检测已成为许多近期研究（包括临床试验）的核心。有必要在临床实践中为 CRC 组织的分子检测提供循证建议，以指导表皮生长因子受体（EGFR）靶向治疗和常规化疗方案。本指南旨在制定循证建议，通过对文献的系统回顾，帮助建立 CRC 的标准分子生物标志物检测。
方法 美国临床病理学会（ASCP）、美国病理学家学院（CAP）、分子病理学协会（AMP）和美国临床肿瘤学会（ASCO）召集专家小组制定了循证指南，以帮助建立标准的分子生物标志物检测，指导靶向治疗，并为 CRC 患者提供个性化护理。进行了全面的文献检索，包括 4000 多篇文章，以收集数据为该指南提供信息。
结果 确定了 21 条指南陈述（8 条建议、10 条专家共识意见和 3 条不建议）。
建议 证据支持对 EGFR 信号通路中的基因进行突变检测，因为它们提供了临床可操作的信息，作为抗 EGFR 单克隆抗体治疗针对 CRC 的靶向治疗的阴性预测因子。几种生物标志物的突变具有明确的预后价值。用于预测和预后分子生物标志物的分子检测的实验室方法涉及到检测方法的选择、要检测的标本类型、检测的订购时机以及检测结果的周转时间。更多信息可在以下网址获得：www.asco.org/CRC-markers-guideline 和 www.asco.org/guidelineswiki。
