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摘要:目的
比较2013版及2018版美国临床肿瘤学会/美国病理医师学院（ASCO/CAP）乳腺癌HER2检测指南，对免疫组织化学HER2不确定（2+）乳腺癌FISH判读结果的影响及其临床意义。通过与FISH对比，分析DISH的准确性及存在问题。
方法选取568例免疫组织化学HER2不确定浸润性乳腺癌石蜡包埋标本，使用FISH技术进行HER2基因状态检测，分别采用2013及2018版ASCO/CAP乳腺癌HER2检测指南进行结果判读。随机选取60例样本进行DISH检测，并与FISH对比分析。
结果依据2013版指南，HER2阳性183例（32.22%）、阴性365例（64.26%）、不确定20例（3.52%）。采用新指南判读标准，HER2阳性率减少了4.58%，阴性率无差别，两种判读标准差异具有统计学意义（P < 0.01）。对60例肿瘤样本的FISH和DISH检测结果比较，两者总符合率为95.0%，阳性符合率为94.7%；阴性符合率为100%，两种方法的检测结果显著相关（r=0.636, P < 0.01）。
结论2018版ASCO/CAP HER2检测指南与2013版相比，判读标准更明确、分类更精细，对临床用药更具指导作用。DISH技术具有亮视野的优点，与FISH有同样的临床诊断价值。
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关键词:
- 荧光原位杂交 /
- 双色银增强原位杂交 /
- 人表皮生长因子受体2 /
- 乳腺癌 /
- 曲妥珠单抗
Abstract:ObjectiveTo compare the differences between 2013 and 2018 ASCO/CAP HER2 testing guidelines in 568 immunohistochemical HER2 equivocal breast cancer patients and to analyze the accuracy and deficiency of dual-color silver enhanced in-situ hybridization (DISH) by comparing with FISH.
MethodsWe selected 568 cases of paraffin-embedded invasive breast cancer specimen which were proved as HER2 equivocal by immunohistochemical (IHC). The HER2 gene amplification status was evaluated by FISH and comparatively analyzed according to both the 2013 and 2018 ASCO/CAP HER2 Testing guidelines respectively. Sixty specimens were randomly selected for DISH detection and compared with FISH.
ResultsAccording to the 2013 guideline, the number of HER2 positive, negative and equivocal cases were 183 (32.22%), 365 (64.26%) and 20 (53.52%), respectively. Compared with the 2013 guideline, HER2 positive rate decreased by 4.58% according to the revised 2018 guideline, and the negative rates were same; the difference of positive rates was statistically significant (P < 0.01). Comparison between FISH and DISH findings in 60 samples, the total, positive and negative coincidence rates were 95.0%, 94.7% and 100%, and the results of the two methods are significantly correlated (r=0.636, P < 0.01).
ConclusionCompared with 2013 ASCO/CAP guideline, the revised 2018 guidelines is more accurate and instructive for clinical medication. DISH could achieve similar precise results as compared to FISH. Bright field detection is the irreplaceable advantage of DISH.
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作者贡献蒋依娜： 实验设计、部分FISH及DISH实验操作、数据整理及分析、论文撰写及修改王博： 统计学分析周灿： 临床资料整理及分析王鸿雁： 实验及论文指导
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图 1 HER2基因扩增阳性的浸润性乳腺癌
Figure 1 HER2 positive invasive breast cancer specimen tested by FISH and DISH
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图 2 HER2基因扩增不确定的浸润性乳腺癌
Figure 2 HER2 equivocal invasive breast cancer specimen tested by FISH and DISH
表 1 568例免疫组织化学不确定的浸润性乳腺癌HER2 FISH检测结果
Table 1 FISH results of HER2 in 568 cases of immunohistochemical HER2 equivocal invasive breast cancer
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表 2 FISH和DISH方法检测HER2基因状态的比较
Table 2 Comparison of HER2 gene status between FISH and DISH test
下载: 导出CSV
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