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一名67岁女性,患有与胰腺腺癌相关的BRCA 1基因突变。

A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma.

作者信息

Lowery Maeve, Shah Manish A, Smyth Elizabeth, Epstein Andrew, Segal Amiel, Rosengarten Ora, Isacson Rut, Drukker Lior, Keinan Anner, Rachkiman Meir, Reissman Petachae, Gabizon Alberto, Kelsen David, O'Reilly Eileen M

机构信息

Memorial Sloan-Kettering Cancer Center, New York, NY, USA.

出版信息

J Gastrointest Cancer. 2011 Sep;42(3):160-4. doi: 10.1007/s12029-010-9197-1.

Abstract

INTRODUCTION

There are approximately 40,000 new cases of pancreatic adenocarcinoma diagnosed in the USA each year. It is estimated that 5-10% of all patients with pancreatic cancer have a first-degree relative with the disease, while up to 20% of cases have a hereditary component. Individuals who carry a germline mutation in the BRCA 1 or 2 genes have an increased lifetime risk of developing pancreatic adenocarcinoma when compared with the general population.

CASE REPORT

Here, we present a case of metastatic pancreatic adenocarcinoma arising in a 67-year-old carrier of a BRCA 1 germline mutation.

DISCUSSION

In patients with known BRCA 1 or 2 mutation-associated pancreatic adenocarcinoma, the addition of a DNA cross-linking agent such as cisplatin, oxaliplatin, or mitomycin to a standard gemcitabine chemotherapy backbone should be considered. Poly ADP-ribose inhibitors are a novel class of drug, which have demonstrated promising efficacy in trials of BRCA 1 and 2 mutant breast and ovarian cancer, and are currently undergoing prospective evaluation in advanced pancreatic cancer.

摘要

引言

在美国,每年约有40000例新诊断的胰腺腺癌病例。据估计,所有胰腺癌患者中5% - 10%有患该病的一级亲属,而高达20%的病例有遗传因素。与普通人群相比,携带BRCA 1或2基因种系突变的个体患胰腺腺癌的终生风险增加。

病例报告

在此,我们报告一例发生于一名携带BRCA 1基因种系突变的67岁患者的转移性胰腺腺癌病例。

讨论

对于已知与BRCA 1或2突变相关的胰腺腺癌患者,应考虑在标准吉西他滨化疗方案基础上加用DNA交联剂,如顺铂、奥沙利铂或丝裂霉素。聚ADP - 核糖抑制剂是一类新型药物,已在BRCA 1和2突变型乳腺癌和卵巢癌试验中显示出有前景的疗效,目前正在晚期胰腺癌中进行前瞻性评估。

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