Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
JNCI Cancer Spectr. 2021 Jan 23;5(2). doi: 10.1093/jncics/pkaa121. eCollection 2021 Apr.
The Ataxia-Telangiesctasia, mutated () gene is involved in a number of DNA damage repair pathways and confers an increased risk for pancreatic ductal adenocarcinoma (PDAC). In this retrospective study, we identified and profiled 22 patients with PDAC and a known somatic or germline pathogenic alteration (case patients). These patients were matched 2:1 by age, stage, and year at diagnosis to patients with PDAC without known alterations. The median overall survival in patients with alterations was 40.2 months compared with 15.5 months in the control population (hazard ratio = 0.14, 95% confidence interval = 0.04 to 0.47, 2-sided = .001). In multivariable analysis, these findings persisted after adjustment for receipt of platinum therapy and Eastern Cooperative Oncology Group status. These findings suggest that pathogenic alterations may be prognostic for improved outcomes in patients with pancreatic cancer.
共济失调毛细血管扩张突变基因（）参与了许多 DNA 损伤修复途径，并增加了患胰腺导管腺癌（PDAC）的风险。在这项回顾性研究中，我们鉴定并分析了 22 例已知有体细胞或种系致病性突变的 PDAC 患者（病例患者）。这些患者按年龄、分期和诊断年份与无已知突变的 PDAC 患者进行了 2:1 匹配。携带突变的患者的中位总生存期为 40.2 个月，而对照组为 15.5 个月（风险比=0.14，95%置信区间为 0.04 至 0.47，双侧=0.001）。多变量分析表明，在调整铂类治疗和东部合作肿瘤学组（ECOG）状态后，这些发现仍然存在。这些发现表明，致病性突变可能与胰腺癌患者的预后改善相关。
