Università Cattolica Del Sacro Cuore, Roma, Italy.
Division of Gynecologic Oncology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
Cancer Treat Rev. 2022 Nov;110:102454. doi: 10.1016/j.ctrv.2022.102454. Epub 2022 Aug 11.
Neoadjuvant chemotherapy (NACT) for breast cancer (BC) increases surgical and conservative surgery chances. However, a significant proportion of patients will not be eligible for conservative surgery following NACT because of large tumor size and/or low chemosensitivity, especially for hormone receptor (HR)-positive/ human epidermal growth factor receptor 2 (HER2)-negative tumors, for which pathological complete response rates are lower than for other BC subtypes. On the other hand, for luminal BC neoadjuvant endocrine therapy could represent a valid alternative. Several gene expression assays have been introduced into clinical practice in last decades, in order to define prognosis more accurately than clinico-pathological features alone and to predict the benefit of adjuvant treatments. A series of studies have demonstrated the feasibility of using core needle biopsy for gene expression risk testing, finding a high concordance rate in the risk result between biopsy sample and surgical samples. Based on these premises, recent efforts have focused on the utility of gene expression signatures to guide therapeutic decisions even in the neoadjuvant setting. Several prospective and retrospective studies have investigated the correlation between gene expression risk score from core needle biopsy before neoadjuvant therapy and the likelihood of 1) clinical and pathological response to neoadjuvant chemotherapy and endocrine therapy, 2) conservative surgery after neoadjuvant chemotherapy and endocrine therapy, and 3) survival following neoadjuvant chemotherapy and endocrine therapy. The purpose of this review is to provide an overview of the potential clinical utility of the main commercially available gene expression panels (Oncotype DX, MammaPrint, EndoPredict, Prosigna/PAM50 and Breast Cancer Index) in the neoadjuvant setting, in order to better inform decision making for luminal BC beyond the exclusive contribution of clinico-pathological features.
新辅助化疗（NACT）可提高乳腺癌（BC）的手术和保守手术机会。然而，由于肿瘤体积大和/或化疗敏感性低，尤其是激素受体（HR）阳性/人表皮生长因子受体 2（HER2）阴性肿瘤，很大一部分患者在接受 NACT 后不符合保守手术条件，这些肿瘤的病理完全缓解率低于其他 BC 亚型。另一方面，对于管腔型 BC，新辅助内分泌治疗可能是一种有效的替代方法。过去几十年中，已经引入了几种基因表达检测方法用于临床实践，以便比单独的临床病理特征更准确地定义预后，并预测辅助治疗的获益。一系列研究已经证明了使用核心针活检进行基因表达风险检测的可行性，在活检样本和手术样本之间发现风险结果具有很高的一致性。基于这些前提，最近的研究重点是基因表达谱在新辅助治疗中的应用，以指导治疗决策，甚至在新辅助治疗中也是如此。一些前瞻性和回顾性研究调查了新辅助治疗前核心针活检的基因表达风险评分与以下方面的相关性：1）新辅助化疗和内分泌治疗的临床和病理反应的可能性；2）新辅助化疗和内分泌治疗后进行保守手术的可能性；3）新辅助化疗和内分泌治疗后的生存情况。本文综述的目的是概述主要商业上可用的基因表达谱（Oncotype DX、MammaPrint、EndoPredict、Prosigna/PAM50 和 Breast Cancer Index）在新辅助治疗中的潜在临床应用，以便在管腔型 BC 中更好地告知决策，而不仅仅是基于临床病理特征。
