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Next-generation sequencing of bile cell-free DNA for the early detection of patients with malignant biliary strictures
dc.creator | Arechederra, María | es_ES |
dc.creator | Rullán, María | es_ES |
dc.creator | Amat Villegas, Irene | es_ES |
dc.creator | Oyón, Daniel | es_ES |
dc.creator | Zabalza, Lucía | es_ES |
dc.creator | Elizalde, María | es_ES |
dc.creator | Latasa, Maria Ujue | es_ES |
dc.creator | Mercado Gutiérrez, María R. | es_ES |
dc.creator | Ruiz-Clavijo, Daniel | es_ES |
dc.creator | Saldaña, Cristina | es_ES |
dc.creator | Fernández-Urién Sainz, Ignacio | es_ES |
dc.creator | Carrascosa, Juan | es_ES |
dc.creator | Jusué, Vanesa | es_ES |
dc.creator | Guerrero Setas, David | es_ES |
dc.creator | Zazpe, Cruz | es_ES |
dc.creator | González Borja, Iranzu | es_ES |
dc.creator | Sangro, Bruno | es_ES |
dc.creator | Herranz, José M. | es_ES |
dc.creator | Purroy, Ana | es_ES |
dc.creator | Gil, Isabel | es_ES |
dc.creator | Nelson, Leonard J. | es_ES |
dc.creator | Vila, Juan J. | es_ES |
dc.creator | Krawczyk, Marcin | es_ES |
dc.creator | Zieniewicz, Krzysztof | es_ES |
dc.creator | Patkowski, Waldemar | es_ES |
dc.creator | Milkiewicz, Piotr | es_ES |
dc.creator | Cubero, Francisco Javier | es_ES |
dc.creator | Alkorta Aranburu, Gorka | es_ES |
dc.creator | Fernández-Barrena, Maite G. | es_ES |
dc.creator | Urman, Jesús M. | es_ES |
dc.creator | Berasain, Carmen | es_ES |
dc.creator | Ávila, Matías A. | es_ES |
dc.date.accessioned | 2022-01-10T11:14:22Z | |
dc.date.available | 2022-01-10T11:14:22Z | |
dc.date.issued | 2021 | |
dc.identifier.issn | 0017-5749 | |
dc.identifier.uri | https://hdl.handle.net/2454/41677 | |
dc.description.abstract | Objective: despite significant progresses in imaging and pathological evaluation, early differentiation between benign and malignant biliary strictures remains challenging. Endoscopic retrograde cholangiopancreatography (ERCP) is used to investigate biliary strictures, enabling the collection of bile. We tested the diagnostic potential of next-generation sequencing (NGS) mutational analysis of bile cell-free DNA (cfDNA). Design: a prospective cohort of patients with suspicious biliary strictures (n=68) was studied. The performance of initial pathological diagnosis was compared with that of the mutational analysis of bile cfDNA collected at the time of first ERCP using an NGS panel open to clinical laboratory implementation, the Oncomine Pan-Cancer Cell-Free assay. Results: an initial pathological diagnosis classified these strictures as of benign (n=26), indeterminate (n=9) or malignant (n=33) origin. Sensitivity and specificity of this diagnosis were 60% and 100%, respectively, as on follow-up 14 of the 26 and eight of the nine initially benign or indeterminate strictures resulted malignant. Sensitivity and specificity for malignancy of our NGS assay, herein named Bilemut, were 96.4% and 69.2%, respectively. Importantly, one of the four Bilemut false positives developed pancreatic cancer after extended follow-up. Remarkably, the sensitivity for malignancy of Bilemut was 100% in patients with an initial diagnosis of benign or indeterminate strictures. 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. | en |
dc.description.sponsorship | Funding: we thank the financial support of CIBERehd; grants PI16/01126 and PI19/00163 from Instituto de Salud Carlos III (ISCIII) cofinanced by ’Fondo Europeo de Desarrollo Regional’ (FEDER) ’Una manera de hacer Europa’; grants 58/2017 and 55/2018 from Gobierno de Navarra Salud; grant 0011-1411-2020-000010 from AGATA Strategic Project from Gobierno de Navarra; grant 2020/101 from Euroregion Nouvelle Aquitaine-Euskadi-Navarra; Fundación Eugenio Rodríguez Pascual; Fundación Mario Losantos, Fundación M Torres; grant 2018/117 from AMMF, the Cholangiocarcinoma Charity; the COST Action CA181122 Euro-cholangio-Net; POSTD18014AREC postdoctoral fellowship from AECC to MA; and Ramón y Cajal Program contracts RYC-2014-15242 and RYC-2018-024475-1 to FJC and MGFB. | en |
dc.format.extent | 22 p. | |
dc.format.mimetype | application/pdf | en |
dc.language.iso | eng | en |
dc.publisher | BMJ Publishing Group | |
dc.relation.ispartof | Gut. 2021; 0:1–11 | |
dc.rights | © Author(s). Creative Commons Attribution-NonCommercial License 4.0 | en |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | |
dc.subject | Biliary strictures | en |
dc.subject | Cholangiocarcinoma | en |
dc.subject | Diagnostic and therapeutic endoscopy | en |
dc.subject | Mutation screening | en |
dc.subject | Pancreatic tumours | en |
dc.title | Next-generation sequencing of bile cell-free DNA for the early detection of patients with malignant biliary strictures | en |
dc.type | Artículo / Artikulua | es |
dc.type | info:eu-repo/semantics/article | en |
dc.contributor.department | Ciencias de la Salud | es_ES |
dc.contributor.department | Osasun Zientziak | eu |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | en |
dc.rights.accessRights | Acceso abierto / Sarbide irekia | es |
dc.identifier.doi | 10.1136/gutjnl-2021-325178 | |
dc.relation.publisherversion | http://doi.org/10.1136/gutjnl-2021-325178 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
dc.type.version | Versión publicada / Argitaratu den bertsioa | es |
dc.contributor.funder | Gobierno de Navarra / Nafarroako Gobernua | es |