domingo, 14 de enero de 2018

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.

DaVee T1, Coronel E1, Papafragkakis C1, Thaiudom S1, Lanke G1, Chakinala RC1, Nogueras González GM2, Bhutani MS1, Ross WA1, Weston BR1, Lee JH3.

Author information

Abstract

BACKGROUND AND AIMS:

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.

METHODS:

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.

RESULTS:

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).

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 pancreatic cancer screening.