CAJ | 학술논문

目的:探讨乳腺癌17号染色体多体对人类表皮生长因子受体2(epidermal growth factor receptor 2,HER2)检测结果的影响及其临床病理学意义.方法:采用荧光原位杂交(fluorescence in situ hybridization, FISH)双色法检测71例原发性浸润性乳腺癌中HER2基因和17号染色体拷贝数目情况.采用HER2绝对拷贝数标准和HER2/chromosome 17 比值标准,判定HER2的FISH检测结果;基于FISH检测结果,结合免疫组织化学法(immunohistochemistry, IHC)检测的HER2蛋白表达情况及相关临床病理参数进行分组对比分析.结果: 无论按照HER2绝对拷贝数标准(14/71,19.7%)或HER2/chromosome17 比值标准(2/71, 2.8%),所有FISH检测结果示HER2基因扩展可疑的病例都为17号染色体多体;与HER2基因扩增阴性者相比,单纯17号染色体多体组在肿瘤分级、淋巴结转移以及激素受体表达上差异无统计学意义(P均>0.05);而与HER2基因扩增阳性组相比,单纯17号染色体多体组表现出更低的肿瘤分级(50.0% vs 81.5%, P=0.025)、更高的淋巴结阴性率(55.6% vs 25.9%, P=0.045)以及更高的雌激素受体(estrogen receptor,ER)阳性率(83.3% vs 41.7%, P=0.005)和孕激素受体(progestogen receptor,PR)阳性率(87.5% vs 44.4%, P=0.003).结论:相比于HER2基因扩增组,单纯17号染色体多体组更倾向于HER2基因扩增阴性;17号染色体多体会影响HER2检测结果,是FISH检测中导致可疑结果产生的主要原因.
목적:탐토유선암17호염색체다체대인류표피생장인자수체2(epidermal growth factor receptor 2,HER2)검측결과적영향급기림상병이학의의.방법:채용형광원위잡교(fluorescence in situ hybridization, FISH)쌍색법검측71례원발성침윤성유선암중HER2기인화17호염색체고패수목정황.채용HER2절대고패수표준화HER2/chromosome 17 비치표준,판정HER2적FISH검측결과;기우FISH검측결과,결합면역조직화학법(immunohistochemistry, IHC)검측적HER2단백표체정황급상관림상병리삼수진행분조대비분석.결과: 무론안조HER2절대고패수표준(14/71,19.7%)혹HER2/chromosome17 비치표준(2/71, 2.8%),소유FISH검측결과시HER2기인확전가의적병례도위17호염색체다체;여HER2기인확증음성자상비,단순17호염색체다체조재종류분급、림파결전이이급격소수체표체상차이무통계학의의(P균>0.05);이여HER2기인확증양성조상비,단순17호염색체다체조표현출경저적종류분급(50.0% vs 81.5%, P=0.025)、경고적림파결음성솔(55.6% vs 25.9%, P=0.045)이급경고적자격소수체(estrogen receptor,ER)양성솔(83.3% vs 41.7%, P=0.005)화잉격소수체(progestogen receptor,PR)양성솔(87.5% vs 44.4%, P=0.003).결론:상비우HER2기인확증조,단순17호염색체다체조경경향우HER2기인확증음성;17호염색체다체회영향HER2검측결과,시FISH검측중도치가의결과산생적주요원인.
Objective:To investigate the impact of polysomy 17 of breast cancer on testing results of human epidermal growth factor receptor 2 (HER2) and its clinicopathologic significance. Methods:Seventy-one patients with primary invasive breast carcinoma were studied. The HER2 gene and chromosome 17 copy numbers were determined by dual-color fluorescence in situ hybridization (FISH). The testing results were expressed by absolute HER2 gene copy number or the ratio of HER2 to chromosome 17. Based on the FISH testing results and HER2 protein expression determined by immunohistochemistry the results were compared between different groups divided by related clinicopathologic parameters.Results:All patients who had doubtable FISH results, either by absolute HER2 copy number (14 of 71 patients; 19.7%) or by the ratio HER2/chromosome 17 (2 of 71 patients, 2.8%), displayed polysomy 17. Polysomy 17-positive patients had no significant difference with HER2-negative patients in tumor grade, lymph node metastasis, and estrogen receptor (ER) expression (all P>0.05); but compared with HER2-positive patients, they showed lower tumor grade (50.0% vs 81.5%, P=0.025), higher rate of negative lymph node (55.6% vs 25.9%, P=0.045), and higher rate of ER positive expression (83.3% vs 41.7%, P=0.005) and progesterone receptor(PR)positive expression (87.5% vs 44.4%, P=0.003).Conclusion:Compared with HER2 gene amplification group, polysomy 17-positive group tends to have negative HER2 gene expression. Polysomy 17 influences the testing results of HER2 and may be the main factor that caused doubtable results in FISH examination.