北京大学学报(医学版) ›› 2014, Vol. 46 ›› Issue (5): 686-690.

• 论著 • 上一篇    下一篇

伴17号染色体着丝粒区扩增乳腺癌的人表皮生长因子受体2状态评估

张爽1*,王颖1*,郭郑旻1,张虹1,徐玲2,刘荫华2,李挺1△   

  1. (北京大学第一医院1.病理科,2.乳腺中心,北京100034)
  • 出版日期:2014-10-18 发布日期:2014-10-18

Evaluation and indication of human epithelial growth factor receptor 2 status in breast carcinoma with amplified chromosome 17 centromere locus

ZHANG Shuang1*, WANG Ying1*, GUO Zheng-min1, ZHANG Hong1, XU Ling2, LIU Yin-hua2, LI Ting1△   

  1. (1.Department of Pathology, 2. Breast Center, Peking University First Hospital, Beijing 100034, China)
  • Online:2014-10-18 Published:2014-10-18

摘要: 目的:探讨17号染色体着丝粒区(chromosome 17 centromere locus,CEP17)扩增的乳腺癌人表皮生长因子受体2(human epithelial growth factor receptor 2,HER2)状态评估及其意义。 方法:218例浸润性乳腺癌,采用免疫组织化学(immunohistochemistry,IHC)检测HER2蛋白表达情况,荧光原位杂交(fluorescence in situ hybridization,FISH)检测HER2基因状态。 结果: 218例中,发现2例FISH检测有CEP17扩增:(1)病例1 HER2信号呈点状分布,平均2.6个/细胞核,CEP17信号呈簇状或多点状分布,HER2/CEP17比值远低于阳性标准,评估为HER2基因未扩增,伴CEP17扩增;(2)病例2 HER2信号呈多点状分布,平均6.8个/细胞核,CEP17信号呈多点状分布,平均5.9个/细胞核,评估为HER2基因扩增,伴CEP17扩增。两例IHC HER2蛋白表达均为2+。 结论:乳腺癌CEP17扩增发生率低,可伴随或不伴随HER2扩增;当FISH显示CEP17扩增时,评估HER2信号绝对拷贝数尤为重要,并综合HER2/CEP17比值以及蛋白表达水平进行HER2状态准确评估,为临床治疗靶向用药提供尽可能准确的信息。

关键词: 乳腺肿瘤, 基因, erbB-2, 原位杂交, 荧光, 着丝粒

Abstract: Objective: To study the evaluation of human epithelial growth factor receptor 2 (HER2) status in breast carcinoma with amplified chromosome 17 centromere locus (CEP17) and clinical significance of CEP17 amplification. Methods: Two hundred-eighteen cases of breast carcinoma were collected. We performed immunohistochemistry (IHC) to test HER2 protein and fluorescence in situ hybridization (FISH) to evaluate HER2 gene status. Results: Two cases in this cohort manifested CEP17 amplification. HER2 signals for case 1 was countable, and the average number was 2.6 per one nuclei, and the signals of CEP17 were clustered or multipunctiform. This case was evaluated as no HER2 amplification, but with amplified CEP17 . In case 2 the signals of HER2 and CEP17 were countable, and the average number of HER2 signal was 6.8 per one nucleus while CEP17 signal was 5.9 per one nucleus. The status was considered as HER2 and CEP17 coamplification. And the levels of HER2 protein expression of these two cases were both two plus. Conclusion: The incidence of CEP17 amplification in breast carcinoma is rare, with or without HER2 amplification. We recommend to evaluate the exact HER2 status by the HER2 copy number, and should also analyze the HER2/CEP17 ratio and the level of HER2 protein, for providing more accurate evidence to support the clinical target therapy.

Key words: Breast neoplasms, Gene, erbB-2, In situ hybridization, fluorescence, Centromere

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