Directorate of Surgical Pathology, SA Pathology at the Royal Adelaide Hospital, Adelaide, S.A., Australia.
BreastScreen SA, 167 Flinders Street, Adelaide, S.A., Australia.
Mod Pathol. 2020 Sep;33(9):1783-1790. doi: 10.1038/s41379-020-0555-7. Epub 2020 May 4.
The 2018 iteration of the ASCO-CAP HER2 testing guidelines proposes significant changes with an emphasis on the integration of concurrent immunohistochemistry (IHC) and in situ hybridization (ISH). We wished to evaluate the impact of these changes on clinical practice. Between Jan 2012 to Feb 2017, 2132 consecutive invasive breast carcinomas were evaluated with IHC and ISH for HER2. The sample tested was the breast primary or axillary nodes in all but 57 (2.7%) distant metastases. For 1824 cases with both dual-probe ISH and IHC results, the ISH subgroup was 1: 299 (16.4%), 2: 19 (1.0%), 1.0%, 3: 6 (0.3%), 4: 48 (2.6%) and 5: 1452 (79.6%). Ultimately 21% of group 2 and 4 cases and 80% of group 4 cases were positive. The change in HER2 status between the 2018 vs 2013 was: amplified in 323 (15.2%) vs 15.5%; not amplified in 1804 (84.6%) vs 82.2%; equivocal in 0 vs 2.3% previously. In 22 of 2127 cases (1.03%) the 2013 and 2018 results were discordant, all in groups 2-4. The discrepant cases included 15 of 331 (4.5%) of 2013 amplified cancers, now negative (all in groups 2 or 3) and 7 of 1796 (0.4%) 2013 nonamplified cases, now positive (all in group 4). Because of routine testing with both IHC and ISH, we found 6 of 1147 (0.52%) IHC negative (0 or 1+) cases were amplified by ISH. Further, 19 of 289 (6.6%) of IHC 3+ cases were nonamplified by ISH, circumstances not covered by these guidelines. In summary at the population level, the 2018 ASCO-CAP guidelines have a 99% agreement with the 2013 results. A major advantage is the abolishment of the clinically problematic equivocal category. Routine performance of both IHC and ISH uncovers a small proportion of cancers whose HER2 status is not addressed by these guidelines.
2018 年版 ASCO-CAP HER2 检测指南提出了重大变化,重点是整合同时进行的免疫组织化学(IHC)和原位杂交(ISH)检测。我们希望评估这些变化对临床实践的影响。在 2012 年 1 月至 2017 年 2 月期间,对 2132 例连续的浸润性乳腺癌进行了 IHC 和 ISH 检测以评估 HER2 状态。除了 57 例(2.7%)远处转移灶外,检测的样本均为乳腺原发灶或腋窝淋巴结。对于 1824 例同时进行了双探针 ISH 和 IHC 检测的病例,ISH 亚组的情况如下:1:299(16.4%)、2:19(1.0%)、1.0%、3:6(0.3%)、4:48(2.6%)和 5:1452(79.6%)。最终,2 组和 4 组中的 21%病例和 4 组中的 80%病例呈阳性。与 2013 年相比,2018 年 HER2 状态的变化为:扩增的比例从 323 例(15.2%)升至 354 例(15.5%);不扩增的比例从 1804 例(84.6%)降至 1664 例(82.2%);不确定的比例从 0 例升至 0.8%。在 2127 例病例中,有 22 例(1.03%)的 2013 年和 2018 年的结果不一致,均在 2-4 组中。不一致的病例包括:15 例 2013 年扩增的癌症(占 331 例的 4.5%),现呈阴性(均为 2 或 3 组);7 例 2013 年非扩增的癌症(占 1796 例的 0.4%),现呈阳性(均为 4 组)。由于同时进行了 IHC 和 ISH 检测,我们发现有 6 例 1147 例 IHC 阴性(0 或 1+)的病例(占 52%)经 ISH 检测呈扩增。此外,289 例 IHC 3+病例中有 19 例(占 6.6%)经 ISH 检测呈非扩增,这些情况不在本指南的涵盖范围内。总之,在人群水平上,2018 年 ASCO-CAP 指南与 2013 年的结果有 99%的一致性。一个主要的优势是取消了临床有问题的不确定类别。常规进行 IHC 和 ISH 检测揭示了一小部分 HER2 状态未被这些指南涵盖的癌症。