Jia Xiaomeng, Zhao Shanshan, Li Xiang, Lv Li, Chen Xin, Pan Evenki, Ou Qiuxiang, Song Chen, Sun Siwen, Zhao Jinbo, Xu Lingzhi, Li Man
Department of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People's Republic of China.
Department of Radiology, The Second Hospital of Dalian Medical University, Dalian, 116023, People's Republic of China.
Onco Targets Ther. 2021 Nov 27;14:5353-5360. doi: 10.2147/OTT.S334847. eCollection 2021.
The treatment options for cancer of unknown primary (CUP) are challenging due to the lack of knowledge about the primary sites, often resulting in a poor prognosis. The emerging next-generation sequencing (NGS) technique has provided a reliable approach to facilitate tumor primary site prediction and targetable gene alteration identification for CUP patients. In this report, we described a 63-year-old female patient who experienced recurrent CUP. NGS-based genetic profiling results revealed a pathogenic germline R71K mutation. Accordingly, the patient received the poly(adenosine diphosphate [ADP]-ribose) polymerase () inhibitor olaparib treatment and demonstrated a favorable response to this treatment. Our case suggests that NGS holds great promise for providing improved diagnosis and treatment options to patients with CUP, warranting further clinical investigation.
由于对原发部位缺乏了解，未知原发癌（CUP）的治疗选择具有挑战性，这往往导致预后不良。新兴的下一代测序（NGS）技术为促进CUP患者的肿瘤原发部位预测和可靶向基因改变识别提供了一种可靠的方法。在本报告中，我们描述了一名63岁复发性CUP女性患者。基于NGS的基因谱分析结果显示存在致病性种系R71K突变。因此，该患者接受了聚（腺苷二磷酸[ADP] - 核糖）聚合酶（）抑制剂奥拉帕尼治疗，并对该治疗表现出良好反应。我们的病例表明，NGS在为CUP患者提供改进的诊断和治疗选择方面具有巨大潜力，值得进一步临床研究。
