乳腺病理学新技术的进展和争议  

Advances and controversies in new techniques of breast pathology

作　　者：张钰佳 马力[1] ZHANG Yujia;MA Li(Department of Breast Center,The Fourth Hospital of Hebei Medical University,Shijiazhuang 050011,Hebei Province,China)

机构地区：[1]河北医科大学第四医院乳腺中心,河北石家庄050011

出　　处：《中国癌症杂志》2025年第3期283-290,共8页China Oncology

基　　金：河北医科大学第四医院科研创新团队支持计划(2023B01)。

摘　　要：乳腺病理学技术的发展为乳腺癌的精准分型和个体化治疗提供了基础支撑。目前,乳腺癌诊疗精准化已成为基本趋势,多种新型药物的出现对乳腺癌病理学诊断的精确度提出了更高的要求。德曲妥珠单抗(trastuzumab deruxtecan,T-DXd)的应用为人表皮生长因子受体2(human epidermal growth factor receptor 2,HER2)低表达(HER2-low)与HER2超低表达(HER2-ultra low)乳腺癌患者提供了新的治疗可能。随着HER2表达状态分类的细化,免疫组织化学(immunohistochemistry,IHC)技术作为传统HER2检测手段的检验效能受到挑战,HER2-low存在判读一致性较差的问题,判读结果存在空间异质性、时间异质性并受空白切片保存时间影响,寻找可提高IHC检验效能和判读准确度的辅助方法以及合理可及的新型HER2检测方式是当前重要的探索方向。在此背景下,HER2-low由于不具有明显稳定的生物学和病理学特征,以及缺乏特殊的治疗获益和预后相关性,目前尚不适宜被视作独立的分子分型。随着基因检测技术的普及和发展,多种乳腺癌致病相关基因被确定,相应药物的研发应用使基因诊断在乳腺癌诊疗中的决策权重提升。近年来磷脂酰肌醇3-激酶(phosphoinositide 3-kinase,PI3K)/蛋白激酶B(protein kinase B,AKT)/哺乳动物雷帕霉素靶蛋白(mammalian target of rapamycin,mTOR)信号通路(简称PAM通路)抑制剂在激素受体(hormone receptor,HR)阳性/HER2阴性晚期乳腺癌治疗中显示出良好潜力,临床对于PIK3CA/AKT1/PTEN基因检测的重视程度不断提升,初检时间前移成为趋势;检测样本首选肿瘤组织样本,可使用血浆样本作为必要补充,原发肿瘤或复发肿瘤样本检测效力相似,均可酌情选择。BRCA突变是乳腺癌常见的基因突变类型之一,目前国内外多部指南对于BRCA突变检测的目标人群推荐情况存在细节差异,但总体原则均为根据患者确诊年龄、相关家族史及既往治疗反应选�The development of breast pathology technology provides basic support for precise typing and individualized treatment of breast cancer.Precision in breast cancer diagnosis and management is evolving as a fundamental trend,with the advent of novel therapeutic agents necessitating enhanced accuracy in pathological diagnostic evaluations.The application of trastuzumab deruxtecan(T-DXd)has offered new therapies for breast cancer patients with human epidermal growth factor receptor 2(HER2)-low and HER2-ultra low status.With the refinement of the classification for HER2 expression status,as a traditional detection method,the efficacy of immunohistochemistry(IHC)has been challenged.In addition,HER2-low has poor interpretation consistency,with spatial and temporal heterogeneity,which is affected by the storage time of the blank slides.Nowadays,finding auxiliary methods that can effectively improve the testing efficiency and interpretation accuracy of IHC as well as new accessible HER2 detection methods are important exploration directions.Whether HER2-low can be considered an independent molecular type of breast cancer has become an important issue with the update of treatments and the progress of new drugs.However,the answer is no at this time due to the absence of distinct and stable biological and pathological features and the lack of specific therapeutic benefit and prognostic relevance.With the widespread adoption and advancement of genomic profiling technologies,multiple causative genetic mutations associated with breast cancer have been identified.The development and clinical application of targeted drugs have elevated genomic profiling to an increasingly pivotal role in clinical decision-making for breast cancer treatment.In recent years,multiple inhibitors targeting the phosphoinositide 3-kinase(PI3K)/protein kinase B(AKT)/mammalian target of rapamycin(mTOR)signaling pathway(PAM pathway)have demonstrated promising therapeutic efficacy in hormone receptor(HR)positive/HER2-negative breast cancer.The clinical prior

关 键 词：乳腺 病理学 新技术 人表皮生长因子受体2低表达 磷脂酰肌醇3-激酶/蛋白激酶B/哺乳动物雷帕霉素靶蛋白信号通路 BRCA 

分 类 号：R737.9[医药卫生—肿瘤]