Platteter Emilie, Wulf Gerburg
Phase One Cancer Clinical Trials, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Case Rep Oncol. 2024 Mar 1;17(1):392-398. doi: 10.1159/000535743. eCollection 2024 Jan-Dec.
The advent of immune checkpoint inhibitors marks significant progress in the evolution of cancer treatment. Recent clinical trials have demonstrated the success of immune-oncologic (IO) agents like pembrolizumab (Keytruda) in combination with chemotherapy against triple-negative breast cancer (TNBC) [Ann Oncol. 2017 Jun 1;28(6):1388-1398]. There is less literature investigating pembrolizumab in monotherapy and in cases of rare tumor mutational burden.
Here, we report the case of a 65-year-old Native American and African American woman with previous incomplete lines of therapy diagnosed with recurrent TNBC and pulmonary metastases. Next-generation sequencing of the metastatic nodules demonstrated a significantly hypermutated tumor with rare polyploidy. The patient had a durable (14 months) response and ongoing remission of the metastatic lesions after administering the programmed cell death 1 inhibitor pembrolizumab. No serious immune checkpoint inhibitor-related toxicities or disease progression was observed during the treatment.
Our report describes recurrent TNBC with a rare amount of hypermutation and the successful use of an IO agent as a treatment.
免疫检查点抑制剂的出现标志着癌症治疗发展取得了重大进展。最近的临床试验表明，像帕博利珠单抗（可瑞达）这样的免疫肿瘤学（IO）药物与化疗联合用于治疗三阴性乳腺癌（TNBC）取得了成功[《肿瘤学年鉴》。2017年6月1日；28(6):1388 - 1398]。关于帕博利珠单抗单药治疗以及罕见肿瘤突变负荷情况的文献较少。
在此，我们报告一例65岁的具有美国原住民和非裔美国人血统的女性患者，其既往治疗方案未完成，被诊断为复发性TNBC并伴有肺转移。对转移结节进行的二代测序显示肿瘤存在显著的高突变且伴有罕见的多倍体现象。在给予程序性细胞死亡蛋白1抑制剂帕博利珠单抗后，患者出现了持久（14个月）的反应且转移病灶持续缓解。治疗期间未观察到严重的与免疫检查点抑制剂相关的毒性反应或疾病进展。
我们的报告描述了具有罕见高突变数量的复发性TNBC以及成功使用IO药物进行治疗的情况。
