Jacobs Flavia, Gaudio Mariangela, Benvenuti Chiara, De Sanctis Rita, Santoro Armando, Zambelli Alberto
IRCCS Humanitas Research Hospital, Humanitas Cancer Center, Via Manzoni 56, 20089 Rozzano, MI, Italy.
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, MI, Italy.
Cancers (Basel). 2022 Dec 27;15(1):148. doi: 10.3390/cancers15010148.
Several multigene assays have been developed to help clinicians in defining adjuvant treatment for patients with hormone-receptor-positive (HR+), human epidermal growth factor receptor-2 (HER2)-negative early breast cancer. Despite the 21-gene assay having been available for decades, it has only recently been included in the healthcare systems of several countries. Clinical optimisation of the test remains of critical interest to achieve a greater impact of genomic information in HR+/HER2- early breast cancer. Although current guidelines recommend the use of the 21-gene assay in early breast cancer at intermediate risk of relapse, the implication of the Recurrence Score (RS) in some grey areas still remains uncertain. Our aim is to critically discuss the role of RS in peculiar circumstances. In particular, we focus on the complex integration of genomic data with clinicopathological factors; the potential clinical impact of RS in node-positive premenopausal women and in the neoadjuvant setting; the significance of RS in special histologies and in male patients; and the management and time-optimisation of test ordering. In the absence of robust evidence in these areas, we provide perspectives for improving the use of the 21-gene assay in the decision-making process and guide adjuvant treatment decisions even in challenging cases.
已经开发了几种多基因检测方法,以帮助临床医生确定激素受体阳性(HR+)、人表皮生长因子受体2(HER2)阴性早期乳腺癌患者的辅助治疗方案。尽管21基因检测方法已经问世数十年,但直到最近才被纳入一些国家的医疗体系。对该检测进行临床优化仍然至关重要,以便在HR+/HER2-早期乳腺癌中让基因组信息发挥更大作用。尽管当前指南推荐在复发风险中等的早期乳腺癌中使用21基因检测,但复发评分(RS)在一些灰色地带的意义仍不明确。我们的目的是批判性地讨论RS在特殊情况下的作用。具体而言,我们关注基因组数据与临床病理因素的复杂整合;RS在淋巴结阳性的绝经前女性和新辅助治疗中的潜在临床影响;RS在特殊组织学类型和男性患者中的意义;以及检测订购的管理和时间优化。在这些领域缺乏有力证据的情况下,我们提供了一些观点,以改善21基因检测在决策过程中的应用,并指导即使在具有挑战性的病例中的辅助治疗决策。