title: Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene.
abstract: Cardiac myxomas are rare tumors that may be encountered sporadically or in the context of the Carney complex. The molecular basis for the development of cardiac myxomas and Carney complex tumors is unclear. Pathological myocardial function and myocardial hypertrophy have been associated with alterations in the heterotrimeric GTP-binding proteins. The postulated proto-oncogenic character of the gene encoding the alpha sub-unit of the stimulatory GTP-binding protein Gs alpha (gsp) in pituitary and thyroid tumors, the finding of identical somatic gsp mutations in the myocardium of patients with McCune-Albright syndrome, and the associated endocrine anomalies of the Carney complex prompted us to investigate the occurrence of activating missense mutations in the Gs alpha gene in 10 sporadically occurring atrial myxomas and in 8 tumors from 7 patients with Carney complex. No gsp mutations could be demonstrated by using the polymerase chain reaction and denaturing gradient gel electrophoresis complemented by direct DNA sequencing. Thus, activating Gs alpha mutations neither are associated with the development of atrial myxomas, nor can be demonstrated in other tumors from patients with Carney complex. The significance of these mutations in the myocardium of asymptomatic patients with McCune-Albright syndrome remains to be determined.
authors.affiliation: Department of Pharmacology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors.forename: L
authors.initials: L
authors.lastname: DeMarco
authors.forename: C A
authors.initials: CA
authors.lastname: Stratakis
authors.forename: W L
authors.initials: WL
authors.lastname: Boson
authors.forename: O
authors.initials: O
authors.lastname: Jakbovitz
authors.forename: E
authors.initials: E
authors.lastname: Carson
authors.forename: L M
authors.initials: LM
authors.lastname: Andrade
authors.forename: V F
authors.initials: VF
authors.lastname: Amaral
authors.forename: J L
authors.initials: JL
authors.lastname: Rocha
authors.forename: G P
authors.initials: GP
authors.lastname: Choursos
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics; D004700:Endocrine System Diseases / Q000235:genetics; D005091:Exons; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs; D019204:GTP-Binding Proteins / Q000235:genetics*; D006338:Heart Neoplasms / Q000235:genetics*; D006801:Humans; D007911:Lentigo / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009232:Myxoma / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D009442:Neurilemmoma / Q000235:genetics; D016133:Polymerase Chain Reaction; D013577:Syndrome
chemical_list: D004247:DNA; D019204:GTP-Binding Proteins; D019205:GTP-Binding Protein alpha Subunits, Gs