title: Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine, Division of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine , Seoul , Korea.
authors.forename: Tae Young
authors.initials: TY
authors.lastname: Park
authors.forename: Sung Koo
authors.initials: SK
authors.lastname: Lee
authors.forename: Jin-Seok
authors.initials: JS
authors.lastname: Park
authors.forename: Dongwook
authors.initials: D
authors.lastname: Oh
authors.forename: Tae Jun
authors.initials: TJ
authors.lastname: Song
authors.forename: Do Hyun
authors.initials: DH
authors.lastname: Park
authors.forename: Sang Soo
authors.initials: SS
authors.lastname: Lee
authors.forename: Dong Wan
authors.initials: DW
authors.lastname: Seo
authors.forename: Myung-Hwan
authors.initials: MH
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D018293:Cystadenoma, Serous / Q000175:diagnosis*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018358:Neuroendocrine Tumors / Q000175:diagnosis*; D010179:Pancreas / Q000473:pathology*; D010181:Pancreatic Cyst / Q000175:diagnosis*; D012189:Retrospective Studies; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000175:diagnosis*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human
keywords: pancreas; pancreatic tumor; von Hippel–Lindau disease