文章：

子宫内膜癌中HER2检测的实施：大型三级癌症中心真实世界初步经验总结

Implementation of HER2 Testing in Endometrial Cancer, a Summary of Real-World Initial Experience in a Large Tertiary Cancer Center

原文发布日期：31 May 2024

DOI: 10.3390/cancers16112100

类型: Article

开放获取: 是

英文摘要：

HER2-targeted therapies have transformed the management of advanced or recurrent serous endometrial cancer (EC), leading to an increased clinical demand for HER2 testing. Despite its adoption in select academic centers, the global extent of such tumor testing is unclear. In this study, we report on the initial two-year experience of HER2 testing at a major academic center with a reference gynecologic oncology service and biomarker reference laboratory. All patients who underwent HER2 testing based on physician discretion, reflex HER2 testing, and reference laboratory requests were included. From February 2021 to October 2023, HER2 testing was performed on 192 tumor tissue samples from 180 EC patients. Serous carcinoma constituted 52% of samples, reflecting diagnostic challenges and limited therapeutic options for advanced EC. HER2 positivity was found in 28% of all cases and 30% of p53-aberrant cases. An immunohistochemistry (IHC) score of 3+ was found in 15% of samples, while IHC 2+ was found in 45% (13% IHC 2+/ISH+ and 32% IHC 2+/ISH−). The newly identified ‘HER2-low’ category comprised 46% of the samples. Heterogeneity was noted in 42% of HER2-positive cases, with complex patterns in 3%. NGS and HER2 IHC-FISH showed a 24% discordance, attributed to intratumoral heterogeneity, tumor cellularity, a small number of amplified cells, and the HER2/CEP17 ratio near the cut-off. This study offers real-world insights into HER2 testing in EC, highlighting the challenges and underscoring the need for standardized guidelines in specimen handling, proficiency testing, and scoring criteria to enhance patient management and therapeutic decision-making.

摘要翻译： 

HER2靶向疗法已显著改变晚期或复发性浆液性子宫内膜癌（EC）的治疗模式，从而提升了临床对HER2检测的需求。尽管部分学术中心已开展此项检测，但其在全球范围内的肿瘤检测实施情况尚不明确。本研究报告了一家拥有妇科肿瘤参考诊疗服务及生物标志物参考实验室的大型学术中心在开展HER2检测初期的两年实践经验。研究纳入了所有基于临床医生判断、反射性检测要求及参考实验室申请而接受HER2检测的患者。2021年2月至2023年10月期间，共对180名EC患者的192份肿瘤组织样本进行了HER2检测。浆液性癌样本占比52%，反映了晚期EC的诊断挑战及治疗选择有限的现状。在所有病例中，HER2阳性率为28%，在p53异常病例中为30%。免疫组化（IHC）评分3+的样本占15%，IHC 2+样本占45%（其中13%为IHC 2+/ISH+，32%为IHC 2+/ISH-）。新定义的"HER2低表达"类别占样本总量的46%。在HER2阳性病例中，42%存在异质性，其中3%呈现复杂异质模式。二代测序（NGS）与HER2 IHC-FISH检测结果存在24%的不一致率，主要归因于肿瘤内异质性、肿瘤细胞含量、少量扩增细胞以及HER2/CEP17比值接近临界值等因素。本研究为EC的HER2检测提供了真实世界数据，揭示了当前检测实践中的挑战，并强调需建立标准化的标本处理、能力验证和评分准则指南，以优化患者管理和治疗决策。

原文链接：

Implementation of HER2 Testing in Endometrial Cancer, a Summary of Real-World Initial Experience in a Large Tertiary Cancer Center