Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation

• Main Authors: Jia X, Zhao S, Li X, Lv L, Chen X, Pan E, Ou Q, Song C, Sun S, Zhao J, Xu L, Li M
• Format: Article in Journal/Newspaper
• Language: English
• Published: Dove Medical Press 2021
• Subjects: cancer of unknown primary; brca1 germline mutation; olaparib; next-generation sequencing; Neoplasms. Tumors. Oncology. Including cancer and carcinogens; RC254-282; Evenki
• Online Access: https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a

Xiaomeng Jia,1,* Shanshan Zhao,1,* Xiang Li,2,* Li Lv,3,* Xin Chen,4 Evenki Pan,4 Qiuxiang Ou,4 Chen Song,1 Siwen Sun,1 Jinbo Zhao,1 Lingzhi Xu,1 Man Li1 1Department of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 2Department of Radiology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 3Department of Pathology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of China; 4Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, 210032, People’s Republic of China*These authors contributed equally to this workCorrespondence: Man Li; Lingzhi XuDepartment of Oncology, The Second Hospital of Dalian Medical University, Dalian, 116023, People’s Republic of ChinaTel [phone]; [phone]Email [e-mail]; [e-mail]: 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 BRCA1 R71K mutation. Accordingly, the patient received the poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) 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.Keywords: cancer of unknown primary, BRCA1 germline mutation, olaparib, next-generation sequencing