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 journalArticle

7 Citations (Scopus)

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

Fingerprint

Pituitary Neoplasms
GTP-Binding Proteins
Mutation
Genes
Codon
Single Nucleotide Polymorphism
Exons
Gs GTP-Binding Protein alpha Subunits
Genetic Promoter Regions
Polymerase Chain Reaction
Neoplasms
Proteins

Keywords

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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Ruggeri, R. M., Santarpia, L., Curtò, L., Torre, M. L., Galatioto, M., Galatioto, S., ... Cannavò, S. (2008). Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations. Journal of Endocrinological Investigation, 31(11), 946-949.

Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations. / Ruggeri, R. M.; Santarpia, L.; Curtò, L.; Torre, M. L.; Galatioto, M.; Galatioto, S.; Trimarchi, F.; Cannavò, S.

In: Journal of Endocrinological Investigation, Vol. 31, No. 11, 11.2008, p. 946-949.

Research output: Contribution to journalArticle

Ruggeri, RM, Santarpia, L, Curtò, L, Torre, ML, Galatioto, M, Galatioto, S, Trimarchi, F & Cannavò, S 2008, 'Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations', Journal of Endocrinological Investigation, vol. 31, no. 11, pp. 946-949.
Ruggeri RM, Santarpia L, Curtò L, Torre ML, Galatioto M, Galatioto S et al. Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations. Journal of Endocrinological Investigation. 2008 Nov;31(11):946-949.
Ruggeri, R. M. ; Santarpia, L. ; Curtò, L. ; Torre, M. L. ; Galatioto, M. ; Galatioto, S. ; Trimarchi, F. ; Cannavò, S. / Non-functioning pituitary adenomas infrequently harbor G-protein gene mutations. In: Journal of Endocrinological Investigation. 2008 ; Vol. 31, No. 11. pp. 946-949.
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