Gastrointestinal endoscopy · 2018
Pancreatic cancer screening in high-risk individuals with germline genetic mutations.
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DaVee Tomas, Coronel Emmanuel, Papafragkakis Charilaos, Thaiudom Sayam, Lanke Gandhi, Chakinala Raja C, Nogueras González Graciela M, Bhutani Manoop S, Ross William A, Weston Brian R, Lee Jeffrey H
Аннотация
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.
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.
Предметные рубрики MeSH
AMP-Activated Protein Kinase KinasesAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinAdultAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinColorectal Neoplasms, Hereditary NonpolyposisEarly Detection of CancerEndosonographyFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGerm-Line MutationHumansLi-Fraumeni SyndromeMagnetic Resonance ImagingMaleMiddle AgedMutS Homolog 2 ProteinNeoplastic Syndromes, HereditaryPancreasPancreatic CystPancreatic NeoplasmsPeutz-Jeghers SyndromeProtein Serine-Threonine KinasesRetrospective StudiesTomography, X-Ray ComputedTumor Suppressor Protein p53