Mutational analysis of PRKAR1A and Gsα in sporadic adrenocortical tumors

R. Libé, G. Mantovani, S. Bondioni, A. G. Lania, C. Pedroni, P. Beck-Peccoz, Anna Spada

Research output: Contribution to journalArticlepeer-review

Abstract

Little is known about the pathogenesis of adrenocortical tumors. The cAMP-dependent pathway is physiologically activated by ACTH in adrenocortical cells and different components of this cascade may be altered in some functioning adrenocortical tumors. Recently, mutations of the gene encoding the PKA type 1 A regulatory subunit (R1 A), PRKAR1A, associated with loss of heterozygosity (LOH) at PRKAR1A locus, have been demonstrated in primary pigmented nodular adrenocortical disease (PPNAD), either isolated or associated with Carney complex. Moreover, activating mutations of the Gsα gene (the gsp oncogene) have also been found in a small number of adrenocortical cortisol-secreting adenomas. Aim of this study was to investigate the presence of such genetic alterations on a series of 10 ACTH-independent Cushing syndrome due to non-PPNAD adrenocortical adenomas. The coding sequence of PRKAR1A, evaluated by PCR and direct sequencing analysis, revealed the absence of mutations while heterozygosity for at least 1 polymorphism excluded LOH in most tumors. In one single adenoma gsp mutation was detected. In conclusion, we provide additional evidence that the only mutational changes able to activate the cAMP pathway so far identified, i.e. PRKAR1A mutations and gsp oncogene, are a rare event in adrenocortical tumors.

Original languageEnglish
Pages (from-to)248-251
Number of pages4
JournalExperimental and Clinical Endocrinology and Diabetes
Volume113
Issue number5
DOIs
Publication statusPublished - May 2005

Keywords

  • Adrenocortical tumors
  • Gsα
  • PKAR1A

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Fingerprint Dive into the research topics of 'Mutational analysis of PRKAR1A and Gsα in sporadic adrenocortical tumors'. Together they form a unique fingerprint.

Cite this