Park Ji Hoon, Jo Jung Hyun, Jang Sung Ill, Chung Moon Jae, Park Jeong Youp, Bang Seungmin, Park Seung Woo, Song Si Young, Lee Hee Seung, Cho Jae Hee
Department of Internal Medicine, Division of Gastroenterology, Yonsei University College of Medicine, Seoul 03722, Korea.
Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea.
Cancers (Basel). 2022 Jan 4;14(1):236. doi: 10.3390/cancers14010236.
We evaluated the proportion of / germline mutations in Korean patients with sporadic pancreatic ductal adenocarcinoma (PDAC) and its effect on the chemotherapeutic response of FOLFIRINOX. This retrospective study included patients who were treated at two tertiary hospitals between 2012 and 2020, were pathologically confirmed to have PDAC, and had undergone targeted next-generation sequencing-based germline genetic testing. Sixty-six patients were included in the study (24 men; median age 57.5 years). In the germline test, / pathogenic mutations were found in nine patients (9/66, 13%, , = 3; , = 5; and /, = 1). There was no significant difference in the baseline characteristics according to mutation positivity. Among patients who underwent FOLFIRINOX chemotherapy, patients with a / mutation showed a higher overall response rate than those without a / mutation (71.4% vs. 13.9%, = 0.004). Patients with a germline / mutation showed longer progression-free survival than those without a / mutation, without a significant time difference (18 months vs. 10 months, = 0.297). Patients with a / mutation in the germline blood test had a higher response rate to FOLFIRINOX chemotherapy in PDAC. The high proportion of / germline mutations and response rate supports the need for germline testing in order to predict better treatment response.
我们评估了韩国散发性胰腺导管腺癌（PDAC）患者中胚系突变的比例及其对FOLFIRINOX化疗反应的影响。这项回顾性研究纳入了2012年至2020年间在两家三级医院接受治疗、经病理确诊为PDAC且接受了基于靶向新一代测序的胚系基因检测的患者。66例患者纳入研究（24例男性；中位年龄57.5岁）。在胚系检测中，9例患者发现了致病突变（9/66，13%， = 3； ， = 5；以及 /， = 1）。根据 突变阳性情况，基线特征无显著差异。在接受FOLFIRINOX化疗的患者中，具有 / 突变的患者总缓解率高于无 / 突变的患者（71.4% 对13.9%， = 0.004）。具有胚系 / 突变的患者无进展生存期长于无 / 突变的患者，但时间差异无统计学意义（18个月对10个月， = 0.297）。胚系血液检测中有 / 突变的患者对PDAC的FOLFIRINOX化疗反应率更高。胚系 / 突变的高比例和反应率支持进行胚系检测以预测更好治疗反应的必要性。
