Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations

R. M. Ruggeri, L. Santarpia, L. Curtò, M. L. Torre, M. Galatioto, S. Galatioto, F. Trimarchi, S. Cannavò

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Mutations of the genes encoding the α subunit of the stimulatory G protein (Gs) and of the inhibiting Gi2 protein (GNASI and GNAI2 genes, respectively) have been described in various endocrine neoplasias, including pituitary tumors. Aim: To search for mutations of GNASI and GNAI2 in a continuous series of non-functioning pituitary adenoma (NF-PA) patients neurosurgically treated. Subjects and methods: The surgical samples of 22 patients who have been defined and characterized on a clinical, biochemical, histological, and immunohistochemical point of view have been processed for investigating the presence of the above mutations by PCR amplification of the hot spots exons 8 and 9 of GNASI, and exons 5 and 6 of GNAI2, followed by direct sequencing. Moreover, the promoter region of GNAI2, in order to assess the prevalence of single nucleotide polymorphisms (SNP), was investigated in the same series. Results: A CGT>TGT mutation at codon 201 of GNASI gene in a single case of NFPA was found, but no mutation of GNAI2A was demonstrated. Conclusions: This finding suggests and confirms that G-protein mutations are rare and not crucial in NFPA development. Additionally, we found a silent SNP at codon 318 in the promoter of the Gi2α gene in one out of the 22 NFPA.

Original languageEnglish
Pages (from-to)946-949
Number of pages4
JournalJournal of Endocrinological Investigation
Volume31
Issue number11
Publication statusPublished - Nov 2008

Keywords

  • 318C>G singre nucleotide polymorphism
  • G-proteins
  • GNAI2A
  • GNASI
  • Non-functioning pituitary adenomas

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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