Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: histopathological and molecular genetic analysis

Am J Pathol. 1998 Jul;153(1):223-31. doi: 10.1016/S0002-9440(10)65563-0.

Abstract

Although pancreatic neuroendocrine tumors (NETs) in von Hippel-Lindau (VHL) disease have been reported, their pathological features have not been characterized. In addition, it is unknown whether alterations of the VHL gene are responsible for pancreatic NET development. To evaluate NETs in VHL patients, we performed histopathological analysis of 30 pancreatic tumors in 14 patients. In addition, DNA from NETs and normal pancreatic tissue from 6 patients with documented germ-line VHL gene mutations was studied for allelic deletions of the second copy of the VHL gene by fluorescence in situ hybridization and polymerase chain reaction-based single-strand conformational polymorphism analysis. Morphologically, the tumors were characterized by solid, trabecular, and/or glandular architecture and prominent stromal collagen bands. Sixty percent of the tumors revealed at least focally clear-cell cytology. All tumors were positive for panendocrine immunohistochemistry markers (chromogranin A and/or synaptophysin); 35% of NETs demonstrated focal positivity for pancreatic polypeptide, somatostatin, insulin, and/or glucagon; and no immunostaining for pancreatic and gastrointestinal hormones was observed in 65% of tumors. Dense core neurosecretory granules were evident by electron microscopic examination, and the clear cells additionally revealed abundant intracytoplasmic lipid. All NETs that were subjected to genetic analysis showed allelic loss of the second copy of the VHL gene. We conclude that multiple, nonfunctional pancreatic NETs occur in VHL patients. Stromal collagen bands and clear-cell morphology are important histological features of VHL-associated NETs. The presence of allelic deletions of the VHL gene in pancreatic NETs provides direct molecular evidence for a role of the gene in their tumorigenesis and establishes NET as an independent tumor type of VHL disease.

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers, Tumor / metabolism
  • DNA / analysis
  • DNA, Neoplasm / analysis
  • Female
  • Gene Deletion
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Neuroendocrine Tumors / complications
  • Neuroendocrine Tumors / metabolism
  • Neuroendocrine Tumors / pathology*
  • Pancreas / chemistry
  • Pancreas / metabolism
  • Pancreatic Neoplasms / complications
  • Pancreatic Neoplasms / metabolism
  • Pancreatic Neoplasms / pathology*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / genetics*

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • DNA