双色原位杂交与荧光原位杂交检测乳腺癌HER2基因扩增的比较
Comparison of dual-color in-situ hybridization and fluorescence in-situ hybridization in HER2 gene amplification in breast cancer.
作者信息
Horii Rie, Matsuura Masaaki, Iwase Takuji, Ito Yoshinori, Akiyama Futoshi
机构信息
Division of Pathology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan,
出版信息
Breast Cancer. 2014 Sep;21(5):598-604. doi: 10.1007/s12282-012-0436-0. Epub 2013 Jan 12.
BACKGROUND
HER2 is a prognostic factor in breast cancer, and is predictive of the effects of HER2-targeted drugs. HER2 tests are essential in invasive and metastatic breast cancer. Dual-color in-situ hybridization (DISH) is a novel genetic test, and we investigated its utility in HER2 testing in breast cancer.
METHODS
Using DISH and two FISH methods (FISH method 1, FISH method 2) with representative slices of surgical specimens from 134 invasive breast cancer patients, we performed HER2 gene testing and compared the results for HER2 gene/CEP17 signal ratio and HER2 gene diagnosis.
RESULTS
Of 134 patients, either the HER2 gene or the CEP17 signal could not be counted in 2 patients by DISH, in 1 patient by FISH method 1, and in 1 patient by FISH method 2. HER2 gene/CEP17 signal ratios were strongly correlated in DISH and FISH method 1 (R = 0.85, P < 0.05). Agreement of DISH and FISH method 1 for HER2 gene diagnosis was 98.5 % for all patients, irrespective of gene amplification (κ = 0.97). HER2 gene/CEP17 signal ratios were strongly correlated in DISH and FISH method 2 (R = 0.87, P < 0.05). Agreement of DISH and FISH method 2 for HER2 gene diagnosis was 94.1 % for gene amplification patients, 98.4 % for gene non-amplification patients, and 96.2 % for all patients (κ = 0.92).
CONCLUSIONS
DISH is useful for HER2 gene testing in breast cancer, and is recommended as a new option for assessing HER2 status.
背景
HER2是乳腺癌的一个预后因素，并且可预测HER2靶向药物的疗效。HER2检测在浸润性和转移性乳腺癌中至关重要。双色原位杂交（DISH）是一种新型基因检测方法，我们研究了其在乳腺癌HER2检测中的应用。
方法
我们使用DISH以及两种荧光原位杂交（FISH）方法（FISH方法1、FISH方法2），对134例浸润性乳腺癌患者手术标本的代表性切片进行HER2基因检测，并比较HER2基因/CEP17信号比值及HER2基因诊断结果。
结果
134例患者中，DISH检测有2例无法计数HER2基因或CEP17信号，FISH方法1有1例，FISH方法2有1例。DISH与FISH方法1的HER2基因/CEP17信号比值高度相关（R = 0.85，P < 0.05）。DISH与FISH方法1对所有患者HER2基因诊断的一致性为98.5%，无论基因扩增情况如何（κ = 0.97）。DISH与FISH方法2的HER2基因/CEP17信号比值高度相关（R = 0.87，P < 0.05）。DISH与FISH方法2对基因扩增患者HER2基因诊断的一致性为94.1%，基因非扩增患者为98.4%，所有患者为96.2%（κ = 0.92）。
结论
DISH可用于乳腺癌HER2基因检测，推荐作为评估HER2状态的新选择。
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