Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene

Luiz DeMarco, Constantine A. Stratakis, Wolfanga L. Boson, Orit Jakbovitz, Emma Carson, Luciene M. Andrade, Vania F. Amaral, Juliane L. Rocha, George P. Choursos, Magnus Nordenskj̈ld, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

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 subunit of the stimulatory GTP-binding protein Gsα (gsp) in pituitary and thyroid tumors, the finding of identical somatic gap 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 Gsα 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 Gsα 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.

Original languageEnglish
Pages (from-to)185-188
Number of pages4
JournalHuman Genetics
Volume98
Issue number2
DOIs
StatePublished - 1996
Externally publishedYes

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