Alternative genetic pathways in parathyroid tumorigenesis

J Clin Endocrinol Metab. 1999 Oct;84(10):3775-80. doi: 10.1210/jcem.84.10.6057.

Abstract

In this study 44 parathyroid tumors from 26 sporadic cases, 10 cases previously given irradiation to the neck, and 8 familial cases were screened for sequence copy number alterations by comparative genomic hybridization. In the sporadic adenomas, commonly occurring minimal regions of loss could be defined to chromosome 11 (38%), 15q15-qter (27%), and 1p34-pter (19%), whereas gains preferentially involved 19p13.2-pter (15%) and 7pter-qter (12%). Multiple aberrations were found in sporadic tumors with a somatic mutation and/or loss of heterozygosity of the MEN1 gene. The irradiation-associated tumors also showed multiple comparative genomic hybridization alterations and frequent losses of 11q (50%), and subsequent analysis of the MEN1 gene demonstrated mutations in 4 of 8 cases (50%). The adenomas from familial cases showed few alterations, and in 3 of these tumors a gain of 19p13.2-pter was seen as the only aberration. In this study numerical copy number alterations were frequently detected in sporadic and irradiation-associated parathyroid adenomas, although these tumors are benign. The majority of these alterations were found in tumors with confirmed involvement of the MEN1 gene locus in agreement with a role of the MEN1 gene in genomic stability. Furthermore, the frequent occurrence of MEN1 mutations (50%) in irradiation-associated parathyroid tumors suggests that inactivation of the MEN1 gene is an important genetic alteration involved in the development of parathyroid tumors in postirradiation patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma / genetics
  • Adult
  • Aged
  • Chromosome Aberrations
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Female
  • Humans
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 1 / genetics
  • Mutation / genetics
  • Neck / radiation effects
  • Neoplasms, Radiation-Induced / genetics
  • Nucleic Acid Hybridization
  • Parathyroid Neoplasms / genetics*