Somatic mutation analysis of the MEN1 gene in adrenocortical tumors using denaturing gradient gel electrophoresis (DGGE)

M. Mark, A. Morelli, M. L. Brandi, A. Falchetti, D. Olchovski, G. Arnaldi, F. Mantero, E. Friedman

Research output: Contribution to journalArticlepeer-review

Abstract

Adrenocortical tumors are rare neoplasms, encountered either sporadically or as a familial cluster, notably in the context of multiple endocrine neoplasia type 1 (MEN1). Allelic loss of 11q13 markers has been described in a few adrenal tumors, implicating the involvement of the MEN1 gene in the pathogenesis of these tumors. To assess the extent of the involvement of the MEN1 gene in adrenocortical tumorigenesis, we analyzed 26 sporadically occurring adrenocortical tumors for somatic mutations in the MEN1 gene. PCR amplification of all MEN1 gene coding exons was followed by denaturing gradient gel electrophoresis (DGGE) analysis, and complemented by DNA sequencing of abnormally migrating fragments. Six of 26 tumors displayed distinct, novel sequence alterations: two frameshift and two missense mutations in exon 10, one missense mutation in exon 6, and an intronic alteration at -41 from the splice site at intron 9, of unknown significance. We conclude that the MEN1 gene is involved in adrenocortical tumor development.

Original languageEnglish
Pages (from-to)21-27
Number of pages7
JournalJournal of Endocrine Genetics
Volume2
Issue number1
StatePublished - 2001
Externally publishedYes

Keywords

  • Adrenal tumors
  • DGGE
  • MEN1
  • Somatic mutations

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