Department of Computer Science and Artificial Intelligence, University of Granada, Granada, Spain.
Clin Transl Oncol. 2011 May;13(5):335-40. doi: 10.1007/s12094-011-0663-4.
Accurate HER2 testing is of great clinical value for the identification of breast cancer patients who are eligible for trastuzumab therapy. The aim of this study is to review breast carcinomas diagnosed from 2001 to 2007 at a Spanish National Reference Centre for HER2 testing, evaluating the agreement between HER2 immunohistochemical (IHC) tests and fluorescence in situ hybridisation (FISH) tests.
Demographic and clinical information was obtained from 2751 breast carcinoma patients. HER2 IHC and FISH tests were performed both in a local laboratory and in the reference centre. The HER2 IHC0/1+, IHC2+, IHC3+ and FISH-positive patients comprised 64%, 20%, 16% and 24% of the available population, respectively (results from the reference centre). Using statistical approaches, we evaluated the agreement between: (1) HER2 IHC and FISH tests, and (2) results provided by the local and the reference laboratories.
The data confirmed a statistically significant relation between HER2 overexpression and amplification. We also found that instances of polysomy 17 and heterogeneous patterns of HER2 expression (heterogeneous staining distribution in different areas of the same tumour) are more frequently observed in HER2-positive tumours. Finally, since the diagnoses were made from 2001 to 2007, we could also observe a rising agreement rate between laboratories/pathologists with time.
HER2 testing is most accurate when performed by experienced pathologists and at a high-volume reference laboratory. Polysomy 17 and HER2 heterogeneous staining patterns should also be considered for a better understanding of the variation in the anti-HER2 therapeutic response.
准确的 HER2 检测对于识别适合曲妥珠单抗治疗的乳腺癌患者具有重要的临床价值。本研究旨在回顾 2001 年至 2007 年在西班牙国家 HER2 检测参考中心诊断的乳腺癌，评估 HER2 免疫组织化学（IHC）检测与荧光原位杂交（FISH）检测之间的一致性。
从 2751 例乳腺癌患者中获取人口统计学和临床信息。在当地实验室和参考中心进行 HER2 IHC 和 FISH 检测。HER2 IHC0/1+、IHC2+、IHC3+和 FISH 阳性患者分别占可利用人群的 64%、20%、16%和 24%（来自参考中心的结果）。使用统计方法，我们评估了以下两个方面之间的一致性：（1）HER2 IHC 和 FISH 检测，以及（2）当地和参考实验室提供的结果。
数据证实了 HER2 过表达和扩增之间存在统计学显著关系。我们还发现，HER2 阳性肿瘤中更常出现 17 号染色体三体和 HER2 表达异质性模式（同一肿瘤的不同区域出现异质性染色分布）。最后，由于诊断是在 2001 年至 2007 年期间做出的，因此我们还可以观察到随着时间的推移，实验室/病理学家之间的一致性率不断提高。
HER2 检测最准确的是由经验丰富的病理学家在高容量的参考实验室进行。还应考虑 17 号染色体三体和 HER2 异质性染色模式，以更好地理解抗 HER2 治疗反应的变化。
