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• W2066704312 abstract "Pancreatic cancer (PC) is one of the leading causes of cancer death in Western countries. An increased risk for PC is known in a number of hereditary tumor syndromes. In selected individuals at high risk of developing PC, surveillance of the pancreas might be able to detect premalignant lesions and early invasive cancers, and probably improve survival.In a Dutch family with atypical phenotypic presentation of the familial atypical multiple mole melanoma syndrome with high incidence of PC related to a mutation in the CDKN2A gene, pancreatic surveillance was offered to asymptomatic gene mutation carriers.Three individuals underwent their first screening with endoscopic ultrasound (EUS) and magnetic resonance imaging at an age of 76, 58, and 51 years. In a mother and a daughter, mass lesions were found by EUS in the tail and body of the pancreas. The smallest lesion was not visualized on subsequent computed tomography and magnetic resonance imaging. After surgical resection histologic examination revealed adenocarcinomas in both cases. The patient with the larger lesion was found to have N1 disease. Side branch intraductal papillary mucinous neoplasias were found in the third patient.These findings illustrate the potential of the surveillance of high-risk individuals for PC by EUS. Awareness of clinicians of the existence of hereditary syndromes with increased risk for PC may improve identification of high-risk individuals who could benefit from surveillance. Whether screening improves survival remains to be investigated, as is the optimal interval for screening. Side branch intraductal papillary mucinous neoplasias in these patients may serve as a precancerous marker lesion for early intervention to improve survival." @default.
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• W2066704312 date "2009-10-01" @default.
• W2066704312 modified "2023-10-06" @default.
• W2066704312 title "Atypical Familial Presentation of FAMMM Syndrome With a High Incidence of Pancreatic Cancer" @default.
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• W2066704312 doi "https://doi.org/10.1097/mcg.0b013e3181981123" @default.
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