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Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas

D Russo1, F Arturi, H G Suarez

  • 1Dipartimento di Medicina Sperimentale e Clinica, Catanzaro, Italy.

The Journal of Clinical Endocrinology and Metabolism
|April 1, 1996
PubMed
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Twenty percent of thyroid tumors show TSH receptor (TSHR) mutations. These somatic mutations lead to constitutive activation of the cAMP pathway, contributing to hyperfunctioning thyroid adenomas.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Oncology

Background:

  • Autonomously hyperfunctioning thyroid adenomas represent a significant cause of hyperthyroidism.
  • The TSH receptor (TSHR) plays a crucial role in thyroid hormone regulation.

Purpose of the Study:

  • To investigate the frequency of TSHR gene mutations in thyroid autonomously hyperfunctioning adenomas.
  • To identify specific mutation sites and their impact on TSHR function.

Main Methods:

  • Genomic DNA extraction from 44 thyroid adenomas and adjacent normal tissues.
  • PCR amplification and direct nucleotide sequencing of TSHR exon 10.
  • Analysis of mutation types, locations, and their association with oncogenes.

Main Results:

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  • Point mutations in the TSHR gene were identified in 9 out of 44 adenomas (20%).
  • Mutations were located in codons 619, 623, 632, and 633, affecting the third intracellular loop and sixth transmembrane domain.
  • All identified mutations were somatic and heterozygous, not concurrent with ras or gsp oncogene alterations.

Conclusions:

  • Somatic mutations in the TSHR gene occur in 20% of hyperfunctioning thyroid adenomas.
  • These TSHR mutations are responsible for the constitutive activation of the cAMP pathway, driving tumor development.