摘要目的 探讨2013年修订版美国临床肿瘤学会(ASCO)/美国病理医师学院(CAP)乳腺癌HER2检测指南对浸润性乳腺癌中HER2基因扩增状态判断的影响及其临床意义.方法 选取本院病理科2010-2014年免疫组织化学(IHC)检测HER2不确定(2+)并行荧光原位杂交(FISH)法检测的浸润性乳腺癌1 780例,分别根据2007版和2013版ASCO/CAP检测指南对HER2/CEP17双探针FISH检测结果进行评判,进一步做比较分析.结果 1 780例IHC HER2 2+浸润性乳腺癌中,按2007版ASCO/CAP指南,FISH检测结果显示HER2阳性310例(17.41％)、不确定66例(3.71％)、阴性1404例(78.88％);按2013版ASCO/CAP指南,HER2阳性360例(20.22％)、不确定182例(10.23％)、阴性1 238例(69.55％).与前一版本相比,新版指南使HER2基因扩增阳性率和不确定率分别增加2.81％和6.52％,阴性率减少9.33％,两种诊断标准相比较,判读结果差异具有统计学意义(P＜0.01).结论 2013版ASCO/CAP检测指南判读乳腺癌中HER2基因扩增率、阳性率及不确定率提高,阴性率下降,兼顾HER2/CEP17比值和HER2拷贝数使判读准确性提高,对筛选更多HER2靶向治疗获益个体具有重要价值;但对HER2低拷贝阳性患者的益处以及对HER2不确定病例的临床意义尚需深入研究.

abstractsObjective To analyze the impact of the revised 2013 American Society of Clinical Oncology/College of American Pathologist(ASCO/CAP) HER2 testing guidelines on the status of HER2 and its clinical significance in invasive breast cancers by fluorescent in situ hybridization (FISH).Methods One thousand seven hundred and eighty invasive breast cancer cases with equivocal 2 + immunostaining detected by FISH were retrospectively selected from 2010 to 2014,and the HER2/CEP17 dual-probe results were evaluated according to both the 2007 and 2013 ASCO/CAP guidelines for comparative analysis.Results Among the 1 780 IHC HER2 (2 +) invasive breast cancers,the number of HER2 positive,equivocal and negative case were 310(17.41％),66(3.71％) and 1 404(78.88％) respectively,basing on the 2007 guidelines;whereas basing on the 2013 ASCO/CAP HER2 guidelines,the number of HER2 positive,equivocal and negative case was 360 (20.22％),182 (10.23％) and 1 238 (69.55％) respectively.Compared with the 2007 guidelines,the proportion of positive and equivocal cases were higher in the 2013 guidelines (17.41％ versus 20.22％,3.71％ versus 10.23％ respectively),while the proportion of negative cases was lower(78.88％ versus 69.55％).Conclusions Using the 2013 ASCO/CAP guidelines could lead to an increase in positive and equivocal cases,and a decrease in negative cases.The increase can probably be attributable to the inclusion of HER2 copy number besides HER2/CEP17 ratio as positive criteria,and it improves the accuracy and may be of important value for screening more population who benefit from HER2 targeting treatment;however the benefits for HER2 positive with low HER2 copy number and the clinical significance of the equivocal cases need to be further investigated.