In triple-negative (TNBC) and human epidermal growth factor receptor 2-positive (HER2+) breast cancer patients, neoadjuvant systemic therapy is the standard recommendation for tumors larger than 2 cm. Monitoring the response to primary systemic therapy allows for the assessment of treatment effects, the need for breast-conserving surgery (BCS), and the achievement of pathological complete responses (pCRs). In estrogen receptor-positive/HER2-negative (ER+/HER2-) breast cancer, the benefit of neoadjuvant strategies is controversial, as they have shown lower tumor downstaging and pCR rates compared to other breast cancers. In recent decades, several gene expression assays have been developed to tailor adjuvant treatments in ER+/HER2- early breast cancer (EBC) to identify the patients that will benefit the most from adjuvant chemotherapy (CT) and those at low risk who could be spared from undergoing CT. It is still a challenge to identify patients who will benefit from neoadjuvant systemic treatment (CT or endocrine therapy (ET)). Here, we review the published data on the most common gene expression signatures (MammaPrint (MP), BluePrint (BP), Oncotype Dx, PAM50, the Breast Cancer Index (BCI), and EndoPredict (EP)) and their ability to predict the response to neoadjuvant treatment, as well as the possibility of using them on core needle biopsies. Additionally, we review the changes in the gene expression signatures after neoadjuvant treatment, and the ongoing clinical trials related to the utility of gene expression signatures in the neoadjuvant setting.
在三阴性乳腺癌（TNBC）及人表皮生长因子受体2阳性（HER2+）乳腺癌患者中，对于肿瘤直径大于2厘米的病例，新辅助全身治疗是标准推荐方案。通过监测对初始全身治疗的反应，可以评估治疗效果、判断保乳手术（BCS）的必要性以及病理完全缓解（pCR）的实现情况。而在雌激素受体阳性/HER2阴性（ER+/HER2-）乳腺癌中，新辅助治疗的获益存在争议，因为与其他类型乳腺癌相比，其肿瘤降期率和pCR率较低。近几十年来，针对ER+/HER2-早期乳腺癌（EBC）已开发出多种基因表达检测方法，旨在个体化制定辅助治疗方案，以识别最能从辅助化疗（CT）中获益的患者以及低风险可免于化疗的患者。然而，如何准确识别能从新辅助全身治疗（化疗或内分泌治疗）中获益的患者仍面临挑战。本文综述了目前已发表的相关数据，重点探讨常见基因表达特征检测（包括MammaPrint（MP）、BluePrint（BP）、Oncotype Dx、PAM50、乳腺癌指数（BCI）及EndoPredict（EP））在预测新辅助治疗反应方面的能力，以及其在空心针穿刺活检标本中应用的可能性。同时，我们还分析了新辅助治疗后基因表达特征的变化，并梳理了当前关于基因表达特征在新辅助治疗中应用的临床试验进展。
Gene Expression Signatures for Guiding Initial Therapy in ER+/HER2- Early Breast Cancer
肿瘤(癌症)患者之家