Nunes Ana Tablante, Collyar Deborah E, Harris Lyndsay N
National Cancer Institute, National Institutes of Health, Bethesda, MD (ATN); Patient Advocates in Research (PAIR), Danville, CA (DEC); National Cancer Institute, Cancer Diagnosis Program, National Institutes of Health, Rockville, MD (LNH).
JNCI Cancer Spectr. 2017 Dec 11;1(1):pkx008. doi: 10.1093/jncics/pkx008. eCollection 2017 Sep.
Biomarkers are frequently used to guide decisions for treatment of early-stage estrogen (ER) and progesterone (PR) receptor-positive (ER/PR+) invasive breast cancers and have been incorporated into guidelines. The American Society of Clinical Oncology (ASCO) 2016 guideline and a 2017 update were recently published to help clinicians use the tests available. ASCO currently recommends five tests that show evidence of clinical utility based on the parameters defined in the guideline. These include the 21-gene assay (Oncotype DX), Prediction of Analysis of Microarray-50 (PAM50), 12-gene risk score (Endopredict), Breast Cancer Index (BCI), and, most recently, the 70-gene assay (Mammaprint). However, discordance is often seen when the results of these gene assays are compared in a particular patient, for a number of reasons: the assays were initially developed to answer different questions, and the molecular makeup of each signature reflects this; the patient populations that were studied also differed and may not reflect the patient being tested; furthermore, the study design and statistical analysis varied between each test, leading to different scoring scales that may not be comparable. In this review, the background on the development and validation of these assays is discussed, and studies comparing them are reviewed. To provide guidance on which test to choose, the studies that support the level of evidence for clinical utility are presented. However, the choice of a particular test will also be influenced by socioeconomic factors, clinical factors, and patient preferences. We hope that a better understanding of the scientific and clinical rationale for each test will allow patients and providers to make optimal decisions for treatment of early-stage ER/PR+ breast cancer.
生物标志物常用于指导早期雌激素（ER）和孕激素（PR）受体阳性（ER/PR+）浸润性乳腺癌的治疗决策，并已被纳入指南。美国临床肿瘤学会（ASCO）2016年指南及2017年更新版最近已发布，以帮助临床医生使用现有的检测方法。ASCO目前推荐五项基于指南中定义的参数显示具有临床实用性证据的检测。这些检测包括21基因检测（Oncotype DX）、微阵列50分析预测（PAM50）、12基因风险评分（Endopredict）、乳腺癌指数（BCI），以及最近的70基因检测（Mammaprint）。然而，在特定患者中比较这些基因检测结果时，经常会出现不一致的情况，原因如下：这些检测最初是为回答不同问题而开发的，每个特征的分子构成都反映了这一点；所研究的患者群体也有所不同，可能无法反映正在接受检测的患者情况；此外，每项检测之间的研究设计和统计分析各不相同，导致不同的评分量表可能无法进行比较。在本综述中，将讨论这些检测的开发和验证背景，并对比较它们的研究进行综述。为了提供关于选择哪种检测的指导，将介绍支持临床实用性证据水平的研究。然而，特定检测的选择也将受到社会经济因素、临床因素和患者偏好的影响。我们希望，对每项检测的科学和临床原理有更好的理解，将使患者和医疗服务提供者能够为早期ER/PR+乳腺癌的治疗做出最佳决策。
