title: Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d'Etude de la Maladie de von Hippel-Lindau.
abstract: OBJECTIVE
  Pancreatic involvement in von Hippel-Lindau (VHL) disease, a genetic disorder with a dominant mode of inheritance affecting various organs, has rarely been studied. We assessed the prevalence, type of lesions, natural history, and impact of pancreatic involvement in patients with VHL.
  
  
  METHODS
  A total of 158 consecutive patients from 94 families with VHL disease were studied in a prospective French collaborative study. All patients underwent systematic screening for VHL lesions, including computerized tomography (CT) scanning of the pancreas reviewed by an experienced radiologist. Clinical data, investigations, and treatments performed were also reviewed.
  
  
  RESULTS
  Pancreatic involvement was observed in 122 patients (77.2%) and included true cysts (91.1%), serous cystadenomas (12.3%), neuroendocrine tumors (12.3%), or combined lesions (11.5%). The pancreas was the only organ affected in 7.6% of patients. Patients with pancreatic lesions had fewer pheochromocytomas than those without (14/122 vs. 16/36; P<0.0001), and patients with neuroendocrine pancreatic tumors had renal involvement less often than those without (8/99 vs. 6/20; P = 0.013). None of the patients with neuroendocrine tumors had symptoms of hormonal hypersecretion. Pancreatic lesions evolved in half of patients but required specific treatment in only 10 (8.2%) when they were symptomatic or for the resection of large neuroendocrine tumors.
  
  
  CONCLUSIONS
  Pancreatic involvement is seen in most patients with VHL disease. Although symptoms are rare, specific treatment of pancreatic lesions is required in selected patients, mainly those with neuroendocrine tumors.
authors.affiliation: Fédération Médico-Chirurgicale d'Hépato-Gastroentérologie, France. pascal.hammel@bjn.ap-hop-paris.fr
authors.forename: P R
authors.initials: PR
authors.lastname: Hammel
authors.forename: V
authors.initials: V
authors.lastname: Vilgrain
authors.forename: B
authors.initials: B
authors.lastname: Terris
authors.forename: A
authors.initials: A
authors.lastname: Penfornis
authors.forename: A
authors.initials: A
authors.lastname: Sauvanet
authors.forename: J M
authors.initials: JM
authors.lastname: Correas
authors.forename: D
authors.initials: D
authors.lastname: Chauveau
authors.forename: A
authors.initials: A
authors.lastname: Balian
authors.forename: C
authors.initials: C
authors.lastname: Beigelman
authors.forename: D
authors.initials: D
authors.lastname: O'Toole
authors.forename: P
authors.initials: P
authors.lastname: Bernades
authors.forename: P
authors.initials: P
authors.lastname: Ruszniewski
authors.forename: S
authors.initials: S
authors.lastname: Richard
mesh_terms: D000328:Adult; D003537:Cystadenoma / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018358:Neuroendocrine Tumors / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000601:surgery; D010146:Pain; D010179:Pancreas / Q000000981:diagnostic imaging; D010181:Pancreatic Cyst / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D010190:Pancreatic Neoplasms / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D014057:Tomography, X-Ray Computed; D006623:von Hippel-Lindau Disease / Q000235:genetics*