Bruzas Simona, Kuemmel Sherko, Harrach Hakima, Breit Elisabeth, Ataseven Beyhan, Traut Alexander, Rüland Anna, Kostara Athina, Chiari Ouafaa, Dittmer-Grabowski Christine, Reinisch Mattea
Interdisciplinary Breast Unit, Kliniken Essen-Mitte, 45136 Essen, Germany.
Department of Gynecology with Breast Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
Cancers (Basel). 2021 Sep 11;13(18):4564. doi: 10.3390/cancers13184564.
Next-generation sequencing (NGS) followed by matched therapy has opened up new therapeutic options to patients with metastatic breast cancer (mBC). Here we report our experience with this approach in everyday clinical practice. This retrospective study included 95 patients with mBC who were genotyped with the FoundationOne (CDx) assay in a commercial molecular pathology laboratory. Genetic alterations were identified in all tumor specimens, and 83 patients (87.4%) had a median of 2 (range, 1-6) potentially actionable alterations. A multidisciplinary tumor board recommended genomically guided therapy to 63 patients, 30 of whom received such treatment. Everolimus ( = 15) and anti-human epidermal growth factor receptor 2 (HER2) therapy ( = 6) were most frequently administered. The ratio of progression-free survival (PFS) under NGS-based therapy to PFS under the last line of standard therapy prior to NGS was >1.3 in 13 (43.3%) patients, indicative of a clinical benefit to NGS-directed therapy. One-year overall survival rates were 22.7% (95% CI, 6.5-44.4) in 65 patients allocated to the standard therapy versus 62.9% (95% CI, 41.6-78.2) in 30 patients receiving the matched therapy. In conclusion, NGS-matched treatment improved the clinical outcomes in a subgroup of mBC patients.
下一代测序（NGS）结合匹配疗法为转移性乳腺癌（mBC）患者开辟了新的治疗选择。在此，我们报告我们在日常临床实践中采用这种方法的经验。这项回顾性研究纳入了95例mBC患者，这些患者在一家商业分子病理实验室接受了FoundationOne（CDx）检测进行基因分型。在所有肿瘤标本中均发现了基因改变，83例患者（87.4%）的潜在可操作改变中位数为2（范围1 - 6）。一个多学科肿瘤委员会向63例患者推荐了基因组指导治疗，其中30例接受了此类治疗。依维莫司（ = 15）和抗人表皮生长因子受体2（HER2）治疗（ = 6）是最常给予的治疗。在基于NGS的治疗下无进展生存期（PFS）与NGS之前最后一线标准治疗下的PFS之比在13例（43.3%）患者中>1.3，表明NGS指导的治疗具有临床获益。分配至标准治疗的65例患者的1年总生存率为22.7%（95%CI，6.5 - 44.4），而接受匹配治疗的30例患者为62.9%（95%CI，41.6 - 78.2）。总之，NGS匹配治疗改善了一部分mBC患者的临床结局。
