Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation
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, T...
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ftdoajarticles:oai:doaj.org/article:8b977021a23b4cf2ac1b1253421e1d8a 2023-05-15T16:09:10+02:00 Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M 2021-11-01T00:00:00Z https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a EN eng Dove Medical Press https://www.dovepress.com/favorable-response-to-olaparib-in-a-patient-with-cancer-of-unknown-pri-peer-reviewed-fulltext-article-OTT https://doaj.org/toc/1178-6930 1178-6930 https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a OncoTargets and Therapy, Vol Volume 14, Pp 5353-5360 (2021) cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 article 2021 ftdoajarticles 2022-12-31T07:59:27Z 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 +86-17709873580; +86-17709873532Email dmuliman@163.com; xvlingzhi@sina.comAbstract: 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 Article in Journal/Newspaper Evenki Directory of Open Access Journals: DOAJ Articles Evenki ENVELOPE(132.817,132.817,59.683,59.683) |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
spellingShingle |
cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation |
topic_facet |
cancer of unknown primary brca1 germline mutation olaparib next-generation sequencing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
description |
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 +86-17709873580; +86-17709873532Email dmuliman@163.com; xvlingzhi@sina.comAbstract: 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 |
format |
Article in Journal/Newspaper |
author |
Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M |
author_facet |
Jia X Zhao S Li X Lv L Chen X Pan E Ou Q Song C Sun S Zhao J Xu L Li M |
author_sort |
Jia X |
title |
Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation |
title_short |
Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation |
title_full |
Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation |
title_fullStr |
Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation |
title_full_unstemmed |
Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation |
title_sort |
favorable response to olaparib in a patient with cancer of unknown primary carrying a germline brca1 r71k mutation |
publisher |
Dove Medical Press |
publishDate |
2021 |
url |
https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a |
long_lat |
ENVELOPE(132.817,132.817,59.683,59.683) |
geographic |
Evenki |
geographic_facet |
Evenki |
genre |
Evenki |
genre_facet |
Evenki |
op_source |
OncoTargets and Therapy, Vol Volume 14, Pp 5353-5360 (2021) |
op_relation |
https://www.dovepress.com/favorable-response-to-olaparib-in-a-patient-with-cancer-of-unknown-pri-peer-reviewed-fulltext-article-OTT https://doaj.org/toc/1178-6930 1178-6930 https://doaj.org/article/8b977021a23b4cf2ac1b1253421e1d8a |
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1766405108313096192 |