Molecular genetics of gastroenteropancreatic neuroendocrine tumors

Am J Gastroenterol. 2008 Mar;103(3):729-32. doi: 10.1111/j.1572-0241.2007.01777.x.

Abstract

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are usually sporadic; however, familial (inherited) syndromes, such as the multiple endocrine neoplasia 1 (MEN-1) syndrome, von Hippel-Lindau (VHL) syndrome, neurofibromatosis (NF-1), as well as tuberous sclerosis, may be associated with proximal intestinal and pancreatic NETs. For example, 25% of gastrinoma patients have MEN-1 syndrome. Over the last two decades, the genetic basis of tumorigenesis for these familial syndromes has been clearly identified, providing clinicians with useful screening tools for affected families. Also, over the last few years, advanced molecular genetic techniques, such as comparative genomic hybridization (CGH) and loss of heterozygosity (LOH) analyses, have detected some differences in genomic aberrations among various types of NETs. Whether these chromosomic alterations have implications in the treatment of patients and the outcome of the disease is still unclear.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenoma, Islet Cell / diagnosis
  • Adenoma, Islet Cell / genetics
  • Carcinoid Tumor / diagnosis
  • Carcinoid Tumor / genetics
  • Gastrointestinal Neoplasms / diagnosis
  • Gastrointestinal Neoplasms / genetics*
  • Genetic Testing
  • Humans
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics
  • Neuroendocrine Tumors / diagnosis
  • Neuroendocrine Tumors / genetics*
  • Pancreatic Neoplasms / diagnosis
  • Pancreatic Neoplasms / genetics*