乳腺癌快速诊断套装 Oncotype DX Breast Recurrence Score®

孕酮实验室组织

产品概述
Oncotype DX Breast Recurrence Score® 检测是一项在福尔马林固定石蜡包埋（FFPE）肿瘤组织上进行的基因组检测，用于评估远处复发风险并帮助预测在内分泌治疗基础上加入化疗的潜在获益，适用于激素受体阳性（HR+）、HER2阴性的早期乳腺癌患者。

Breast Recurrence Score 检测原理

• 分析来源于患者的肿瘤样本，取自针芯活检或手术切除组织
• 评估21基因面板的表达情况
  • 16个癌症相关基因
  • 5个参考基因
• 对提取的肿瘤RNA采用逆转录酶‑聚合酶链反应（RT‑PCR）进行分析

提供基因组评估

• 产生Recurrence Score，用以估算仅接受内分泌治疗时的远处复发风险
• 通过预测添加化疗的可能获益，支持临床决策

单基因定量评分

• 报告雌激素受体（ER）定量评分，以评估内分泌治疗获益的程度
• 提供作为补充信息的孕激素受体（PR）和HER2定量评分

临床与实验室信息

• 在 Genomic Health Redwood City clinical laboratory（Genomic Health, Inc.，Exact Sciences Corporation 全资子公司）进行
• Exact Sciences 的临床实验室获得 College of American Pathologists (CAP) 认证并通过 CLIA 资质，具备开展高复杂度临床检测的资格
• 该检测尚未获得美国食品药品监督管理局（US FDA）或其他通报监管机构的批准或许可

主要参考文献与临床证据

• Paik S, Shak S, Tang G, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med. 2004;351(27):2817-2826.
• Paik S, Tang G, Shak S, et al. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol. 2006;24(23):3726-3734.
• Albain KS, Barlow WE, Shak S, et al. Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, estrogen-receptor-positive breast cancer on chemotherapy: a retrospective analysis of a randomised trial. Lancet Oncol. 2010;11(1):55-65.
• Dowsett M, Cuzick J, Wale C, et al. Prediction of risk of distant recurrence using the 21-gene recurrence score in node-negative and node-positive postmenopausal patients with breast cancer treated with anastrozole or tamoxifen: a TransATAC study. J Clin Oncol. 2010;28(11):1829-1834.
• Sparano JA, Gray RJ, Makower DF, et al. Adjuvant chemotherapy guided by a 21-gene expression assay in breast cancer. N Engl J Med. 2018;379(2):111-121.
• Kalinsky K, Barlow WE, Gralow JR, et al. 21-gene assay to inform chemotherapy benefit in node-positive breast cancer. N Engl J Med. 2021;385(25):2336-2347.
• Kalinsky K, et al. Updated results from a phase 3 randomized clinical trial in participants with 1-3 positive lymph nodes, hormone receptor-positive (HR+) and HER2-negative breast cancer with recurrence score of 25 or less: SWOG S1007. Presented at SABCS, Dec. 2021; Abstract GS2-07.
• Sparano JA, Crager M, Gray RJ, et al. Clinical and genomic risk for late breast cancer recurrence and survival. NEJM Evid. 2024;3(8):EVIDoa2300267.
• Jakubowski DM, Bailey H, Abran J, et al. Molecular characterization of breast cancer needle core biopsy specimens by the 21-gene Breast Recurrence Score test. J Surg Oncol. 2020;122(4):611-618.
• Kim C, Tang G, Pogue-Geile KL, et al. Estrogen receptor (ESR1) mRNA expression and benefit from tamoxifen in the treatment and prevention of estrogen receptor-positive breast cancer. J Clin Oncol. 2011;29(31):4160-4167.
• Badve S, et al. Estrogen- and Progesterone-Receptor Status in ECOG 2197: Comparison of Immunohistochemistry and Reverse-Transcription Polymerase Chain Reaction. J Clin Oncol. 2008;26(15):2473–2481.
• Baehner FL, et al. Quantitative RT-PCR analysis of ER, PR, and HER2 expression in FFPE tumor tissue: Comparison with IHC and FISH. J Clin Oncol. 2010;28(15_suppl):10572.

技术参数 / 规格

• 检测类型：基于RT‑PCR的FFPE肿瘤组织基因组检测
• 分析基因：21基因面板（16个癌症相关基因 + 5个参考基因）
• 样本来源：针芯活检或手术切除组织（FFPE）
• 临床输出：Recurrence Score（估算远处复发风险并预测化疗获益）；ER、PR、HER2的定量单基因评分
• 适用人群：HR+、HER2‑ 早期乳腺癌患者（不论淋巴结状态）
• 实验室：在 Genomic Health Redwood City clinical laboratory 执行；CAP 认证，CLIA 资质
• 监管状态：未获美国 FDA 批准或许可