荧光原位杂交（FISH）与双杂交原位杂交（DISH）检测乳腺癌 HER2 状态的比较。

Comparison of fluorescence in situ hybridization (FISH) and dual-ISH (DISH) in the determination of HER2 status in breast cancer.

机构信息

Department of Oncology, Mayo Clinic, Rochester, MN 55905, USA.

出版信息

Am J Clin Pathol. 2013 Feb;139(2):144-50. doi: 10.1309/AJCP13GJAOJAYJMW.

Abstract

The determination of HER2 amplification is critical to selecting appropriate patients for HER2 targeted therapy in breast cancer. Dual in situ hybridization (DISH), an alternative to fluorescence in situ hybridization (FISH) and immunohistochemistry, is now available. To compare the FISH and DISH methods, we tested 251 samples enriched for common or difficult-to-assess HER2 anomalies. Seven samples failed DISH testing. There was a 64% (156/244) concordance between FISH and DISH by anomaly (κ = 0.58, 95% confidence interval, 0.51-0.65; P < .0001) and an 83% (203/244) concordance by amplification status (κ = 0.58; 95% confidence interval, 0.47-0.69; P < .0001). DISH resulted in lower estimates of HER2/ centromere 17 ratios than FISH, and many cases that were equivocal with FISH were normal with DISH. DISH did not detect any case with coamplification of HER2 and centromere 17. Using a cohort of difficult specimens, we observed less than 95% concordance between FISH and DISH. DISH may underestimate the HER2/chromosome 17 ratio, or FISH may overestimate this ratio.

摘要

HER2 扩增的测定对于选择乳腺癌患者进行 HER2 靶向治疗至关重要。双重原位杂交（DISH）是荧光原位杂交（FISH）和免疫组织化学的替代方法，现已可应用。为了比较 FISH 和 DISH 方法，我们测试了 251 个富含常见或难以评估 HER2 异常的样本。有 7 个样本的 DISH 检测失败。通过异常（κ=0.58，95%置信区间，0.51-0.65；P<0.0001）和通过扩增状态（κ=0.58，95%置信区间，0.47-0.69；P<0.0001），FISH 和 DISH 之间的一致性为 64%（156/244）。DISH 导致 HER2/着丝粒 17 比值的估计值低于 FISH，而许多 FISH 结果不确定的病例在 DISH 中则正常。DISH 未检测到任何 HER2 和着丝粒 17 共扩增的病例。使用一组困难的标本，我们观察到 FISH 和 DISH 之间的一致性不到 95%。DISH 可能低估了 HER2/染色体 17 的比值，或者 FISH 可能高估了这个比值。