Asunto(s)
Eritema Necrolítico Migratorio , Tumores Neuroendocrinos , Neoplasias Pancreáticas , Humanos , Eritema Necrolítico Migratorio/etiología , Eritema Necrolítico Migratorio/patología , Tumores Neuroendocrinos/complicaciones , Tumores Neuroendocrinos/diagnóstico , Neoplasias Pancreáticas/complicaciones , Neoplasias Pancreáticas/patología , NecrosisRESUMEN
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.
Asunto(s)
Neoplasias de los Conductos Biliares , Ácidos Nucleicos Libres de Células , Colestasis , Bilis , Neoplasias de los Conductos Biliares/diagnóstico , Neoplasias de los Conductos Biliares/genética , Neoplasias de los Conductos Biliares/patología , Colangiopancreatografia Retrógrada Endoscópica , Colestasis/etiología , Colestasis/genética , Constricción Patológica/diagnóstico , Detección Precoz del Cáncer , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Anciano de 80 o más Años , Tumor de Klatskin/diagnóstico por imagen , Equinococosis Hepática/complicaciones , Colangiopancreatografia Retrógrada Endoscópica/métodos , Fístula Biliar/etiología , Tumor de Klatskin/secundario , Equinococosis Hepática/diagnóstico por imagen , Ictericia Obstructiva/diagnóstico , Tomografía Computarizada por Rayos X , Fístula Biliar/diagnóstico por imagenAsunto(s)
Enfermedades de los Conductos Biliares/diagnóstico , Neoplasias de los Conductos Biliares/diagnóstico , Equinococosis Hepática/diagnóstico , Fístula/parasitología , Tumor de Klatskin/diagnóstico , Anciano de 80 o más Años , Enfermedades de los Conductos Biliares/etiología , Constricción Patológica , Diagnóstico Diferencial , Equinococosis Hepática/complicaciones , Femenino , HumanosRESUMEN
No disponible