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
Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
J Gastrointest Cancer. 2011 Sep;42(3):160-4. doi: 10.1007/s12029-010-9197-1.
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.
Here, we present a case of metastatic pancreatic adenocarcinoma arising in a 67-year-old carrier of a BRCA 1 germline mutation.
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.
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。
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。
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。