@article {Arechederra1141作者= {Arechederra,玛丽亚和工作机制{\ ' n},{3月\ \我}和进一步发展,艾琳和Oyon,丹尼尔和Zabalza,露西亚和Elizalde,玛利亚和Latasa, M Ujue梅尔卡多,玛丽亚R和Ruiz-Clavijo,大卫和Salda {\ ~ n},克里斯蒂娜和蕨类植物{\”}ndez-Uri {\ ' e n}, Ignacio Carrascosa,胡安和Jusu {\ ' e}, Vanesa Guerrero-Setas,大卫和Zazpe,克鲁斯和Gonz {\ '} lez-Borja, Iranzu Sangro,布鲁诺的,Jose M和Purroy安娜和吉尔,伊莎贝尔和纳尔逊,伦纳德·J和维拉,Juan J和Krawczyk, Marcin和Zieniewicz, Krzysztof和Patkowski, Waldemar和Milkiewicz, Piotr和Cubero, Francisco Javier和Alkorta-Aranburu, Gorka和G cristina - barrena, Maite和Urman, Jesus M和Berasain, Carmen和Avila, Matias A}，标题={用于恶性胆道病变患者早期检测的无胆汁细胞DNA的新时代测序}，卷={71}，数={6}，页={1141—1151}，年= {2022}，doi = {10.1136/gutjnl-2021-325178}，目的尽管影像学和病理评价取得了重大进展，但早期鉴别良恶性胆道狭窄仍然具有挑战性。内窥镜逆行胰胆管造影术(ERCP)用于检查胆道狭窄，收集胆汁。我们测试了胆细胞游离DNA (cfDNA)的下一代测序(NGS)突变分析的诊断潜力。研究了可疑胆道狭窄患者的前瞻性队列(n=68)。初步病理诊断的表现与第一次ERCP时收集的胆汁cfDNA突变分析的表现进行了比较，使用NGS面板对临床实验室实施开放，即Oncomine泛癌细胞自由试验。结果初步病理诊断为良性(26例)、不确定(9例)和恶性(33例)。这种诊断的敏感性和特异性分别为60%和100%，因为在随访中，26例中有14例最初是良性或不确定的狭窄，9例中有8例最终导致恶性。NGS检测恶性肿瘤的敏感性和特异性分别为96.4 %和69.2%。重要的是，四个Bilemut假阳性中的一个在延长随访后发展为胰腺癌。值得注意的是，在最初诊断为良性或不确定狭窄的患者中，Bilemut对恶性肿瘤的敏感性为100%。 Analysis of 30 paired bile and tissue samples also demonstrated the superior performance of Bilemut.Conclusion Implementation of Bilemut at the initial diagnostic stage for biliary strictures can significantly improve detection of malignancy, reduce delays in the clinical management of patients and assist in selecting patients for targeted therapies.Data sharing not applicable as no datasets are generated and/or analysed for this study. Our data are not in a repository. Deidentified participant data are all included in the submission.}, issn = {0017-5749}, URL = {//www.marcconsult.com/content/71/6/1141}, eprint = {//www.marcconsult.com/content/71/6/1141.full.pdf}, journal = {Gut} }