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Gastrointest Endosc ; 87(6): 1443-1450, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29309780

RESUMEN

BACKGROUND AND AIMS: Pancreatic cancer (PC) is a deadly disease that is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations. METHODS: Asymptomatic adults underwent PC screening by EUS, magnetic resonance imaging, or CT during a 10-year period and were retrospectively identified. High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis). Patients without germline mutations were excluded. RESULTS: In total, 86 patients met the study criteria. The median age was 48.5 years (interquartile range, 40-58), 79.1% (68) were women, and 43.0% (37) had a family history of PC. The genetic mutations were BRCA2 (50, 58.1%), BRCA1 (14, 16.3%), p53 (12, 14.0%), STK11 (5, 5.8%), MSH2 (3, 3.5%), ATM (1, 1.2%), and APC (1, 1.2%). Screening detected a pancreatic abnormality (PA) in 26.7% (23/86), including cysts (11, 47.8%), hyperechoic strands and foci (10, 43.5%), and mild pancreatic duct dilation (2, 8.7%). Patients older than 60 years were more likely to have a PA detected (P = .043). EUS detected more PAs than magnetic resonance imaging or CT. No cases of PC were diagnosed by screening or during follow-up (median, 29.8 months; interquartile range, 21.7-43.5). CONCLUSIONS: Unless indicated otherwise by family or personal history, PC screening under the age of 50 is low yield. Linear EUS may be the preferred modality for initial PC screening.


Asunto(s)
Páncreas/diagnóstico por imagen , Quiste Pancreático/diagnóstico por imagen , Neoplasias Pancreáticas/diagnóstico por imagen , Quinasas de la Proteína-Quinasa Activada por el AMP , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Proteína de la Poliposis Adenomatosa del Colon/genética , Adulto , Ataxia Telangiectasia/complicaciones , Ataxia Telangiectasia/genética , Proteínas de la Ataxia Telangiectasia Mutada/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/complicaciones , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Detección Precoz del Cáncer , Endosonografía , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Síndrome de Li-Fraumeni/complicaciones , Síndrome de Li-Fraumeni/genética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Proteína 2 Homóloga a MutS/genética , Síndromes Neoplásicos Hereditarios/complicaciones , Síndromes Neoplásicos Hereditarios/genética , Neoplasias Pancreáticas/etiología , Neoplasias Pancreáticas/genética , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinasas/genética , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Proteína p53 Supresora de Tumor/genética
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