Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung Academic Article uri icon

Overview

MeSH Major

  • Carcinoid Tumor
  • Genes, Tumor Suppressor
  • Lung Neoplasms
  • Multiple Endocrine Neoplasia Type 1
  • Neoplasm Proteins
  • Proto-Oncogene Proteins

abstract

  • Lung carcinoids occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). There are no well defined genetic abnormalities known to occur in these tumors. We studied 11 sporadic lung carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was studied. In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene were inactivated. All four tumors showed the presence of a MEN1 gene mutation and loss of the other allele. Observed mutations included a 1 bp insertion, a 1 bp deletion, a 13 bp deletion and a single nucleotide substitution affecting a donor splice site. Each mutation predicts truncation or potentially complete loss of menin. The remaining seven tumors showed neither the presence of a MEN1 gene mutation nor 11q13 LOH. The tumor from the MEN1 patient showed LOH at chromosome 11q13 and a complex germline MEN1 gene mutation. The data implicate the MEN1 gene in the pathogenesis of sporadic lung carcinoids, representing the first defined genetic alteration in these tumors.

publication date

  • December 1997

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed ID

  • 9361035

Additional Document Info

start page

  • 2285

end page

  • 90

volume

  • 6

number

  • 13