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• W2063878230 abstract "Background. von Hippel–Lindau (VHL) disease is an autosomal dominant disorder characterized by the development of multiple tumors in the central nervous system and visceral organs. In this study, we describe clinical features of pancreatic involvement in VHL disease, of which there have been few reported studies to date. Methods. We reviewed medical records of 63 VHL patients, diagnosed at Asan Medical Center between January 1995 and December 2013. Demographic, genetic, and radiologic features, and the clinical course of VHL patients with pancreatic involvement were retrospectively analyzed. Results. Among the 63 VHL patients, 55 (87.4%) had VHL-associated pancreatic lesions (male: female, 31:24; median age at onset, 33 years; range, 12–67 years). These presented as single simple cysts (n = 5, 9.1%), multiple simple cysts (n = 14, 25.5%), serous cystadenoma (n = 29, 52.7%), or neuroendocrine tumors (NETs) (n = 17, 30.9%). Genetic tests were performed on 35 of the 55 patients (63.6%) and VHL gene mutations were observed in 28 of them (80%). Of the 55 patients, 11 received surgical treatment, 2 received endoscopic ultrasonography-guided ethanol ablation therapy as local treatment for NET, and 42 patients were followed regularly without intervention (20%, 3.6%, and 76.4%, respectively). Conclusion. Pancreatic involvement in VHL disease is common, with a prevalence of 87.4%. Serial screening imaging studies for the early detection of VHL-associated NET are necessary in individuals at risk of VHL disease. A large-scale epidemiological study of VHL disease is needed to examine the natural course of the disease and the prognosis for pancreatic involvement." @default.
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• W2063878230 date "2015-01-06" @default.
• W2063878230 modified "2023-10-18" @default.
• W2063878230 title "Clinical features of pancreatic involvement in von Hippel–Lindau disease: a retrospective study of 55 cases in a single center" @default.
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• W2063878230 doi "https://doi.org/10.3109/00365521.2014.992364" @default.
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