■考虑到亚洲乳腺癌(BC)患者的高疾病负担和独特特征,必须全面了解这一群体的遗传特征。通过韩国研究驱动医院项目开发了机构靶向测序平台,并将其纳入临床实践。这项研究探讨了靶向下一代测序(NGS)的使用及其在现实世界中晚期/转移性BC患者中的结果。
我们回顾了使用定制测序平台-FiRST癌症小组(FCP)对BC患者进行的NGS测试的结果。我们系统地描述了FCP用于精确诊断的临床翻译,个性化的治疗策略,并揭示疾病的发病机理。
■对522例BC患者的548个样本进行了NGS测试。97.6%的测试样品至少具有一种致病性改变。常见的改变包括TP53突变(56.2%),PIK3CA(31.2%),GATA3(13.8%),BRCA2(10.2%),和CCND1的扩增(10.8%),FGF19(10.0%),和ERBB2(9.5%)。ERBB2扩增的NGS分析与HER2免疫组织化学和原位杂交密切相关。RNA面板分析发现潜在的可操作和预后的融合基因。FCP有效筛选潜在种系致病性/可能的致病性突变。10.3%的BC患者接受了由NGS指导的匹配治疗,导致显著的总体生存优势(p=0.022),尤其是转移性BCs。.
■临床NGS提供了多方面的好处,加深我们对这种疾病的认识,提高诊断精度,为靶向治疗铺平道路。FCP的具体优势突出了BC多基因检测的重要性,特别是对于转移性疾病。
UNASSIGNED: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
UNASSIGNED: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform - FiRST Cancer Panel (FCP) - over seven years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
UNASSIGNED: NGS tests were conducted on 548 samples from 522 patients with BC. 97.6% of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53(56.2%), PIK3CA(31.2%), GATA3(13.8%), BRCA2(10.2%), and amplifications of CCND1(10.8%), FGF19(10.0%), and ERBB2(9.5%). NGS analysis of ERBB2 amplification correlated well with HER2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. 10.3% of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. .
UNASSIGNED: Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.