一名生殖系 BRCA2 变异携带者的胰腺尖细胞癌对铂和奥拉帕尼治疗的反应：病例报告和文献综述。

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI:10.1007/s10689-024-00390-3

Hiroyuki Matsubayashi, Akiko Todaka, Takahiro Tsushima, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Satomi Higashigawa, Nobuyuki Ohike, Hiroki Sakamoto, Junya Sato, Hirotoshi Ishiwatari, Teichi Sugiura, Katsuhiko Uesaka

{"title":"一名生殖系 BRCA2 变异携带者的胰腺尖细胞癌对铂和奥拉帕尼治疗的反应：病例报告和文献综述。","authors":"Hiroyuki Matsubayashi, Akiko Todaka, Takahiro Tsushima, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Satomi Higashigawa, Nobuyuki Ohike, Hiroki Sakamoto, Junya Sato, Hirotoshi Ishiwatari, Teichi Sugiura, Katsuhiko Uesaka","doi":"10.1007/s10689-024-00390-3","DOIUrl":null,"url":null,"abstract":"A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic acinar cell carcinoma (PACC) treated by remnant pancreatectomy and adjuvant chemotherapy. Thirteen months after surgery, multiple liver metastases developed and FOLFOX chemotherapy was initiated. Based on the PACC diagnosis and a positive family history for breast and ovarian cancer genetic testing was performed which revealed a pathogenic germline BRCA2 variant (c.8629G > T, p.Glu2877Ter). Olaparib therapy was initiated and the metastases responded well (partial response). PACC is a BRCA2-associated cancer which may respond well to PARP inhibitors.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"393-398"},"PeriodicalIF":1.8000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.\",\"authors\":\"Hiroyuki Matsubayashi, Akiko Todaka, Takahiro Tsushima, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Satomi Higashigawa, Nobuyuki Ohike, Hiroki Sakamoto, Junya Sato, Hirotoshi Ishiwatari, Teichi Sugiura, Katsuhiko Uesaka\",\"doi\":\"10.1007/s10689-024-00390-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic acinar cell carcinoma (PACC) treated by remnant pancreatectomy and adjuvant chemotherapy. Thirteen months after surgery, multiple liver metastases developed and FOLFOX chemotherapy was initiated. Based on the PACC diagnosis and a positive family history for breast and ovarian cancer genetic testing was performed which revealed a pathogenic germline BRCA2 variant (c.8629G > T, p.Glu2877Ter). Olaparib therapy was initiated and the metastases responded well (partial response). PACC is a BRCA2-associated cancer which may respond well to PARP inhibitors.\",\"PeriodicalId\":12336,\"journal\":{\"name\":\"Familial Cancer\",\"volume\":\" \",\"pages\":\"393-398\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Familial Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10689-024-00390-3\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/11 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Familial Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10689-024-00390-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/11 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

一名73岁的日本男子曾患远端胆管癌，接受过胰十二指肠切除术，后来又患上了胰腺尖细胞癌（PACC），接受了残余胰腺切除术和辅助化疗。术后13个月，出现多发性肝转移，开始接受FOLFOX化疗。根据 PACC 诊断以及阳性的乳腺癌和卵巢癌家族史，该患者接受了基因检测，结果发现了致病性种系 BRCA2 变异（c.8629G > T, p.Glu2877Ter）。奥拉帕尼治疗开始后，转移灶反应良好（部分反应）。PACC是一种与BRCA2相关的癌症，可能对PARP抑制剂反应良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.

查看原文本刊更多论文

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.

A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic acinar cell carcinoma (PACC) treated by remnant pancreatectomy and adjuvant chemotherapy. Thirteen months after surgery, multiple liver metastases developed and FOLFOX chemotherapy was initiated. Based on the PACC diagnosis and a positive family history for breast and ovarian cancer genetic testing was performed which revealed a pathogenic germline BRCA2 variant (c.8629G > T, p.Glu2877Ter). Olaparib therapy was initiated and the metastases responded well (partial response). PACC is a BRCA2-associated cancer which may respond well to PARP inhibitors.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.