title: Von Hippel-Lindau disease presenting as pancreatic neuroendocrine tumour.
abstract: A 21-year-old woman with a family history of von Hippel-Lindau disease presented with a mass in the head of the pancreas. Light microscopic features of the tumour suggested neuroendocrine differentiation and although it displayed positive immunostaining for the antigens expected in a neuroendocrine neoplasm, S-100 staining was also present. This unusual feature prompted further evaluation by routine and post-embedding protein-A gold immunoelectron microscopy, which demonstrated the presence of neuroendocrine granules. Tumour cell DNA content was normal by flow cytometry. Although this patient exhibited no other signs of von Hippel-Lindau disease, the presence of a pancreatic tumour with neuroendocrine differentiation demonstrated that she was affected. Future surveillance and genetic counselling will be influenced by this diagnosis.
authors.affiliation: Department of Pathology, University of Vermont College of Medicine, Burlington 05405-0068, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Mount
authors.forename: D L
authors.initials: DL
authors.lastname: Weaver
authors.forename: D J
authors.initials: DJ
authors.lastname: Taatjes
authors.forename: W C
authors.initials: WC
authors.lastname: McKinnon
authors.forename: J C
authors.initials: JC
authors.lastname: Hebert
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D016253:Microscopy, Immunoelectron; D018358:Neuroendocrine Tumors / Q000737:chemistry / Q000175:diagnosis* / Q000648:ultrastructure; D010190:Pancreatic Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000648:ultrastructure; D010375:Pedigree; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics