Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability

Cancer Res. 2004 Oct 1;64(19):7039-44. doi: 10.1158/0008-5472.CAN-04-1648.

Abstract

Multiple endocrine neoplasia, type I (MEN1) is an inherited cancer syndrome characterized by tumors arising primarily in endocrine tissues. The responsible gene acts as a tumor suppressor, and tumors in affected heterozygous individuals occur after inactivation of the wild-type allele. Previous studies have shown that Men1 knockout mice develop multiple pancreatic insulinomas, but this occurs many months after loss of both copies of the Men1 gene. These studies imply that loss of Men1 is not alone sufficient for tumor formation and that additional somatic genetic changes are most likely essential for tumorigenesis. The usual expectation is that such mutations would arise either by a chromosomal instability or microsatellite instability mechanism. In a study of more then a dozen such tumors, using the techniques of array-based comparative genomic hybridization, fluorescent in situ hybridization, loss of heterozygosity analysis using multiple microsatellite markers across the genome, and real time PCR to assess DNA copy number, it appears that many of these full-blown clonal adenomas remain remarkably euploid. Furthermore, the loss of the wild-type Men1 allele in heterozygous Men1 mice occurs by loss and reduplication of the entire mutant-bearing chromosome. Thus, the somatic genetic changes that are postulated to lead to tumorigenesis in a mouse model of MEN1 must be unusually subtle, occurring at either the nucleotide level or through epigenetic mechanisms.

MeSH terms

  • Alleles
  • Animals
  • Chromosomal Instability*
  • Female
  • Gene Dosage
  • In Situ Hybridization
  • Insulinoma / genetics*
  • Loss of Heterozygosity
  • Male
  • Mice
  • Mice, Knockout
  • Microsatellite Repeats / genetics
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Pancreatic Neoplasms / genetics*
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / deficiency
  • Proto-Oncogene Proteins / genetics*

Substances

  • Men1 protein, mouse
  • Proto-Oncogene Proteins