title: Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.
abstract: BACKGROUND
  Von Hippel-Lindau (VHL) disease is an autosomal dominant multicancer syndrome caused by the germline mutation of a tumor suppressor gene. Affected individuals develop benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive system. Although VHL disease is mainly diagnosed after the detection of central nervous system tumors, they may not always be the first presentation.
  
  
  METHODS
  We report the case of a patient presenting with pancreatic cysts for whom the final genetic diagnosis of VHL disease was formulated. During management, the use of endoscopic ultrasonography (EUS) proved to be valid in the characterization of the pancreatic lesions. Family screening also revealed the genetic mutation in the patient's son and imaging investigations showed the presence of multiple tumors. The diagnosis allowed us to plan appropriate follow-up for both, thus improving their life expectancy.
  
  
  CONCLUSIONS
  Gastroenterologists should be aware of the frequent pancreatic involvement in VHL disease and EUS can be useful in this setting.
authors.affiliation: Department of Medical Sciences, University of Milan, Milan, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Elli
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Buscarini
authors.forename: Vanessa
authors.initials: V
authors.lastname: Portugalli
authors.forename: Luigi
authors.initials: L
authors.lastname: Reduzzi
authors.forename: Chiara
authors.initials: C
authors.lastname: Reduzzi
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Brambilla
authors.forename: Fernanda
authors.initials: F
authors.lastname: Menozzi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bardella
authors.forename: Luca P
authors.initials: LP
authors.lastname: Piodi
authors.forename: Maja
authors.initials: M
authors.lastname: Caldato
authors.forename: Alessandro
authors.initials: A
authors.lastname: Zambelli
mesh_terms: D000328:Adult; D019160:Endosonography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010181:Pancreatic Cyst / Q000150:complications* / Q000000981:diagnostic imaging; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics