Azzi Georges, Krinshpun Shifra, Tin Antony, Maninder Minu, Malashevich Allyson Koyen, Malhotra Meenakshi, Vega Ruben Ruiz, Billings Paul R, Rodriguez Angel, Aleshin Alexey
Holy Cross Health, Fort Lauderdale, Florida, USA.
Natera, Inc., Austin, Texas, USA.
Case Rep Oncol. 2022 May 2;15(2):473-479. doi: 10.1159/000524324. eCollection 2022 May-Aug.
Triple-negative breast cancer (TNBC) is highly aggressive disease that is often refractory to surgery and multiple lines of therapy. Although the repertoire of FDA-approved treatments has expanded, there is an unmet need for biomarkers that can aid in appropriate selection and timing of therapy. We present a case of highly aggressive treatment-resistant TNBC that employed a comprehensive genomic profiling (CGP)-based assay to identify therapeutic targets, followed by longitudinal circulating tumor DNA (ctDNA) testing. For this, a tumor-naïve next-generation sequencing-based targeted panel was used to aid in therapy selection, along with longitudinal personalized and tumor-informed ctDNA testing to monitor tumor response to treatment. Longitudinal ctDNA testing using the tumor-informed assay detected post-surgical molecular residual disease, and rise in ctDNA levels during the surveillance period provided rationale for switching between four lines of therapy. Overall, the combined use of CGP assay with longitudinal ctDNA testing resulted in a potential prolonged survival in this highly aggressive case of TNBC.
三阴性乳腺癌（TNBC）是一种侵袭性很强的疾病，通常对手术和多线治疗均有耐药性。尽管美国食品药品监督管理局（FDA）批准的治疗方法有所增加，但仍需要能够辅助进行适当治疗选择和确定治疗时机的生物标志物。我们报告了一例侵袭性很强且对治疗耐药的TNBC病例，该病例采用了基于综合基因组分析（CGP）的检测方法来确定治疗靶点，随后进行了纵向循环肿瘤DNA（ctDNA）检测。为此，使用了一种基于新一代测序的未经肿瘤污染的靶向检测板来辅助治疗选择，并通过纵向个性化且基于肿瘤信息的ctDNA检测来监测肿瘤对治疗的反应。使用基于肿瘤信息的检测方法进行纵向ctDNA检测发现了术后分子残留疾病，监测期间ctDNA水平的升高为四线治疗方案的切换提供了依据。总体而言，在这个侵袭性很强的TNBC病例中，CGP检测与纵向ctDNA检测的联合使用可能延长了生存期。
