Cognetti Francesco, Biganzoli Laura, De Placido Sabino, Del Mastro Lucia, Masetti Riccardo, Naso Giuseppe, Pruneri Giancarlo, Santini Donatella, Tondini Carlo Alberto, Tinterri Corrado, Tonini Giuseppe, Barni Sandro
Scuola di specializzazione di Oncologia, La Sapienza University, Rome, Italy.
Sandro Pitigliani Medical Oncology Department, Hospital of Prato, Prato, Italy.
Oncotarget. 2021 Apr 27;12(9):936-947. doi: 10.18632/oncotarget.27948.
Breast cancer is the most common tumour in women and the first cause of death for cancer in the female population. Preserving the quality of life has therefore become an important objective in the management of the disease. The benefits of adjuvant chemotherapy in patients with HR+ HER2- early breast cancer should always be balanced against its potential short and long-term adverse effects, and identifying the appropriate patients for whom chemotherapy can offer the highest clinical benefit is critical. Besides clinical and pathological factors, today four multigene tests able to guide the choice of the adjuvant therapy early breast cancer are available in Italy: Oncotype DX, EndoPredict, MammaPrint e Prosigna. This review evaluates the main characteristics of these diagnostic tests, the studies on clinical utility, their economic impact and their inclusion in international and national guidelines. The Oncotype DX Breast Recurrence Score test is the only multigene test validated, with level IA evidence, to guide the adjuvant therapy decisions: hormone therapy alone for most patients with RS results 0-25, and chemotherapy for patients with RS results 26-100. Clinical data demonstrate that the Oncotype DX test is able to significantly impact therapeutic decisions, reducing chemotherapy use up to 49% and supporting the use of chemotherapy (up to 12%) in potentially under-treated patients. Based on the level of clinical evidence and established clinical utility, several multigene tests have been included in the main international guidelines, with recommendations ranging from "strong" to "moderate".
乳腺癌是女性中最常见的肿瘤，也是女性癌症死亡的首要原因。因此，维持生活质量已成为该疾病治疗中的一个重要目标。HR+ HER2-早期乳腺癌患者辅助化疗的益处应始终与其潜在的短期和长期不良反应相权衡，确定化疗能提供最大临床获益的合适患者至关重要。除了临床和病理因素外，目前在意大利有四种能够指导早期乳腺癌辅助治疗选择的多基因检测方法：Oncotype DX、EndoPredict、MammaPrint和Prosigna。本综述评估了这些诊断检测的主要特征、临床效用研究、它们的经济影响以及它们在国际和国内指南中的纳入情况。Oncotype DX乳腺癌复发评分检测是唯一一项经IA级证据验证可指导辅助治疗决策的多基因检测：复发评分（RS）结果为0-25的大多数患者仅接受激素治疗，RS结果为26-100的患者接受化疗。临床数据表明，Oncotype DX检测能够显著影响治疗决策，将化疗使用率降低多达49%，并支持在可能治疗不足的患者中使用化疗（高达12%）。基于临床证据水平和已确立的临床效用，几种多基因检测已被纳入主要国际指南，推荐等级从“强烈”到“中等”不等。
