domingo, 14 de enero de 2018

Pancreatic cancer screening in high-risk individuals with germline genetic mutations. - PubMed - NCBI

Pancreatic cancer screening in high-risk individuals with germline genetic mutations. - PubMed - NCBI

 2018 Jan 5. pii: S0016-5107(18)30005-1. doi: 10.1016/j.gie.2017.12.019. [Epub ahead of print]

Pancreatic cancer screening in high-risk individuals with germline genetic mutations.



Pancreas cancer (PC) is a deadly disease, which 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.


Asymptomatic adults underwent PC screening by EUS, MRI 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.


In total, 86 patients met criteria. The median age was 48.5 years (interquartile range 40-58), 79.1% (68) were female, 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=0.043). EUS detected more PAs than MRI or CT. No cases of PC were diagnosed by screening, or during follow-up (median 29.8 months; IQR, 21.7-43.5).


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 pancreatic cancer screening.


Early Detection of Cancer; Endosonography; Gastrointestinal Imaging; Genetic Counseling; Pancreatic Carcinoma; Pancreatic Neoplasms


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