Nagai Kosuke, Kuwatani Masaki, Hirata Koji, Suda Goki, Hirata Hajime, Takishin Yunosuke, Furukawa Ryutaro, Kishi Kazuma, Yonemura Hiroki, Nozawa Shunichiro, Sugiura Ryo, Kawakubo Kazumichi, Sakamoto Naoya
Department of Gastroenterology and Hepatology, Hokkaido University Hospital, Sapporo 060-8648, Japan.
Department of Gastroenterology and Hepatology, Hakodate Municipal Hospital, Hakodate 041-8680, Japan.
Diagnostics (Basel). 2022 Nov 5;12(11):2704. doi: 10.3390/diagnostics12112704.
Poor prognosis of pancreaticobiliary malignancies is attributed to intrinsic biological aggressiveness and the lack of reliable methods for early diagnosis. This study aimed to evaluate the feasibility and availability of pancreatic juice- and bile-derived cell-free DNA (cfDNA) for diagnosing pancreaticobiliary stricture. From October 2020 to February 2022, pancreatic juice or bile was obtained from 50 patients with pancreaticobiliary strictures during endoscopic retrograde cholangiopancreatography. cfDNAs extracted from the samples were analyzed using next-generation sequencing and a cancer gene panel. The obtained cfDNAs, genetic data and clinical information were analyzed for diagnosis. cfDNA concentrations in pancreatic juice were higher in the intraductal papillary mucinous neoplasm group than in the other groups, whereas those in bile were similar in all groups. In pancreatic juice, the sensitivity, specificity and positive and negative predictive values of cfDNA analyses were 33%, 100%, 100% and 71.4%, respectively, whereas those of cytological analyses were 0%, 100%, 0% and 62.5%, respectively. In bile, those of cell-free DNA analyses were 53%, 75%, 89.5% and 28.6%, respectively, whereas those of cytological analyses were 19%, 100%, 100% and 16%, respectively. In conclusion, pancreatic juice- and bile-derived cfDNA is a novel liquid biopsy tool that can diagnose pancreaticobiliary strictures.
胰胆恶性肿瘤预后较差，这归因于其内在的生物学侵袭性以及缺乏可靠的早期诊断方法。本研究旨在评估胰液和胆汁来源的游离DNA（cfDNA）用于诊断胰胆狭窄的可行性和实用性。2020年10月至2022年2月期间，在50例胰胆狭窄患者进行内镜逆行胰胆管造影术时获取了胰液或胆汁。使用下一代测序和癌症基因检测板对从样本中提取的cfDNA进行分析。对获得的cfDNA、基因数据和临床信息进行分析以用于诊断。导管内乳头状黏液性肿瘤组胰液中的cfDNA浓度高于其他组，而所有组胆汁中的cfDNA浓度相似。在胰液中，cfDNA分析的敏感性、特异性、阳性预测值和阴性预测值分别为33%、100%、100%和71.4%，而细胞学分析的相应值分别为0%、100%、0%和62.5%。在胆汁中，游离DNA分析的相应值分别为53%、75%、89.5%和28.6%，而细胞学分析的相应值分别为19%、100%、100%和16%。总之，胰液和胆汁来源的cfDNA是一种可用于诊断胰胆狭窄的新型液体活检工具。
