美国临床肿瘤学会和美国病理学会临床实践指南：乳腺癌HER2检测

　　编者按：人类表皮生长因子受体2（HER2）是预测HER2靶向疗法潜在效果的生物标志，为了提高HER2检测分析有效性和临床实用性，美国临床肿瘤学会和美国病理（医师）学会的HER2检测专家组推荐意见于2007年首次发布并于2013年更新。2013年以来，一些实验室和临床研究者报告了2013年指南更新对实验室检测和临床实践的影响，并且观察到不少检测结果模棱两可、难以解读的案例。

　　2018年5月30日，美国临床肿瘤学会《临床肿瘤学杂志》在线发表美国国家癌症研究所、霍普金斯大学、犹他大学、斯坦福大学、圣裘德医学中心、南加利福尼亚大学、美国临床肿瘤学会、梅奥医学中心、癌症信息服务与援助组织、印第安纳大学、加拿大安大略癌症研究所、森尼布鲁克健康科学中心、多伦多女子学院医院、澳大利亚临床实验室、西悉尼大学、英国诺丁汉大学、皇家马斯登医院、意大利米兰大学、欧洲肿瘤研究所起草的美国临床肿瘤学会和美国病理学会临床实践指南专项更新：乳腺癌HER2检测。

　　根据渥太华大学提出的指南更新定量和定性“信号”法，专家组回顾了观察到原位杂交（ISH）不太常见模式的已发表文献和研究调查结果，对推荐意见进行更新。

　　两项以通信形式发表于2015年的推荐意见被采纳。

• 首先，免疫组化（IHC）2+被定义为浸润性乳腺癌轻到中度完全膜染色的肿瘤细胞超过10%。

• 其次，如果原发性乳腺癌的粗针穿刺活检标本初始HER2检测结果为阴性，那么可以（非“必须”）根据特定临床标准对切除标本重新进行HER2检测。

　　乳腺癌HER2检测方法被更新，用于双探针ISH检测观察到少见临床情况（约占所有病例的5%）时的推荐检查。这些情况被描述为：

• ISH组2（HER2/CEP17≥2.0，每个细胞HER2平均拷贝数<4.0）

• ISH组3（HER2/CEP17<2.0，每个细胞HER2平均拷贝数≥6.0）

• ISH组4（HER2/CEP17<2.0，每个细胞HER2平均拷贝数≥4.0且<6.0）

　　诊断方法包括更严格的ISH解读标准，并且对于双探针ISH组2～4，需要结合IHC复查，根据ISH和IHC联合检测解读，获得最精准的HER2状态认定（阳性或阴性）。

　　对于采用单探针ISH分析的实验室，专家组推荐所有单探针ISH分析结合IHC复查，作为结果解读的一部分。

J Clin Oncol. 2018 May 30. [Epub ahead of print]

Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline Focused Update.

Wolff AC, Hammond MEH, Allison KH, Harvey BE, Mangu PB, Bartlett JMS, Bilous M, Ellis IO, Fitzgibbons P, Hanna W, Jenkins RB, Press MF, Spears PA, Vance GH, Viale G, McShane LM, Dowsett M.

Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore; National Cancer Institute, Bethesda, MD; Intermountain Healthcare and University of Utah School of Medicine, Salt Lake City, UT; Stanford University School of Medicine, Stanford; St Jude Medical Center, Fullerton; University of Southern California, Los Angeles, CA; American Society of Clinical Oncology, Alexandria, VA; Ontario Institute for Cancer Research; Sunnybrook Health Sciences Centre and Women's College Hospital, Toronto, Ontario, Canada; Western Sydney University and Australian Clinical Laboratories, Sydney, New South Wales, Australia; The University of Nottingham, Nottingham; The Royal Marsden NHS Foundation Trust, London, United Kingdom; Mayo Clinic, Rochester, MN; Cancer Information and Support Network, Raleigh, NC; Indiana University School of Medicine, Indianapolis, IN; University of Milan and Istituto Europeo di Oncologia, Milan, Italy.

PURPOSE: To update key recommendations of the American Society of Clinical Oncology/College of American Pathologists human epidermal growth factor receptor 2 (HER2) testing in breast cancer guideline.

METHODS: Based on the signals approach, an Expert Panel reviewed published literature and research survey results on the observed frequency of less common in situ hybridization (ISH) patterns to update the recommendations.

RECOMMENDATIONS: Two recommendations addressed via correspondence in 2015 are included. First, immunohistochemistry (IHC) 2+ is defined as invasive breast cancer with weak to moderate complete membrane staining observed in > 10% of tumor cells. Second, if the initial HER2 test result in a core needle biopsy specimen of a primary breast cancer is negative, a new HER2 test may (not "must") be ordered on the excision specimen based on specific clinical criteria. The HER2 testing algorithm for breast cancer is updated to address the recommended work-up for less common clinical scenarios (approximately 5% of cases) observed when using a dual-probe ISH assay. These scenarios are described as ISH group 2 (HER2/chromosome enumeration probe 17 [CEP17] ratio ≥ 2.0; average HER2 copy number < 4.0 signals per cell), ISH group 3 (HER2/CEP17 ratio < 2.0; average HER2 copy number ≥ 6.0 signals per cell), and ISH group 4 (HER2/CEP17 ratio < 2.0; average HER2 copy number ≥ 4.0 and < 6.0 signals per cell). The diagnostic approach includes more rigorous interpretation criteria for ISH and requires concomitant IHC review for dual-probe ISH groups 2 to 4 to arrive at the most accurate HER2 status designation (positive or negative) based on combined interpretation of the ISH and IHC assays. The Expert Panel recommends that laboratories using single-probe ISH assays include concomitant IHC review as part of the interpretation of all single-probe ISH assay results.

PMID: 29846122

DOI: 10.1200/JCO.2018.77.8738

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