Pu Xiaohong, Shi Jiong, Li Zhiwen, Feng Anning, Ye Qing
Department of Pathology, Nanjing University Medical School Affiliated Drum Tower Hospital, 321 Zhongshan Road, Nanjing, Jiangsu 210008, China.
Department of Pathology, Nanjing University Medical School Affiliated Drum Tower Hospital, 321 Zhongshan Road, Nanjing, Jiangsu 210008, China.
Pathol Res Pract. 2015 Jun;211(6):421-5. doi: 10.1016/j.prp.2014.09.010. Epub 2014 Nov 7.
It has been proven that chromosome 17 centromere (CEP17) amplification causes misleading human epidermal growth factor receptor 2 (HER2) gene fluorescence in situ hybridization (FISH) results, precluding anti-HER2-based therapy in some patients with breast carcinoma. We used the 2013 American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) scoring criteria to evaluate HER2 amplification status in 175 cases of breast carcinoma with chromosome 17 polysomy. We used immunohistochemistry (IHC) to determine the HER2 amplification status, and 2-color FISH to detect CEP17, and reviewed the results of initial evaluation using the 2007 ASCO/CAP criteria. Of the 175 cases, 17, 95, and 63 were IHC 0/1+, 2+, and 3+, respectively. Evaluation of IHC HER2 status according to the 2013 ASCO/CAP criteria identified significantly more HER2-positive cases compared to cases evaluated using the 2007 criteria (p<0.05). When the FISH results were evaluated in parallel with the 2013 criteria, we found that 22 cases were not HER2-negative despite the presence of polysomy 17, which, according to the 2013 criteria, indicates HER2-positive status. Our findings indicate that in breast carcinoma, HER2 status in the presence of polysomy 17 may vary with the scoring criteria used. In turn, performing FISH and evaluating samples using the 2013 ASCO/CAP criteria means that more patients with breast cancer may be appropriate for targeted treatment with trastuzumab, potentially improving their outcome.
已证实17号染色体着丝粒（CEP17）扩增会导致人表皮生长因子受体2（HER2）基因荧光原位杂交（FISH）结果出现误导，使一些乳腺癌患者无法接受基于抗HER2的治疗。我们使用2013年美国临床肿瘤学会/美国病理学家协会（ASCO/CAP）评分标准评估了175例伴有17号染色体多体性的乳腺癌病例的HER2扩增状态。我们采用免疫组织化学（IHC）确定HER2扩增状态，用双色FISH检测CEP17，并回顾了使用2007年ASCO/CAP标准进行初始评估的结果。在这175例病例中，IHC 0/1+、2+和3+的分别有17例、95例和63例。根据2013年ASCO/CAP标准评估IHC HER2状态时，与使用2007年标准评估的病例相比，HER2阳性病例显著增多（p<0.05）。当依据2013年标准同时评估FISH结果时，我们发现尽管存在17号染色体多体性，但仍有22例并非HER2阴性，根据2013年标准，这表明为HER2阳性状态。我们的研究结果表明，在乳腺癌中，存在17号染色体多体性时HER2状态可能因所使用的评分标准而异。相应地，采用FISH并依据2013年ASCO/CAP标准评估样本意味着更多乳腺癌患者可能适合接受曲妥珠单抗靶向治疗，这有可能改善其预后。
