title: Analysis of GNAS1 and PRKAR1A gene mutations in human cardiac myxomas not associated with multiple endocrine disorders.
abstract: Cardiac myxomas are rare tumors that usually occur as sporadic lesions or,more rarely, in the familial form,mostly in the context of Carney complex (CNC). The molecular basis for the development of cardiac myxomas is unclear. However, somatic activating mutations in the GNAS1 gene (the gsp oncogene) are detected in the myocardium ofMcCune-Albright syndrome patients while germ-line mutations in the PRKAR1A gene are associated with CNC and familial myxomas. We investigated the presence of activating missense mutations in the GNAS1 gene as well as of inactivating mutations in PRKAR1A in 29 sporadically occurring cardiac myxomas. No gsp and no PRKAR1A mutations were found by direct sequencing of PCR products amplified from tumoral DNA. This is the first study including a large series of sporadic, isolated cardiac myxomas and showing that these cardiac neoplasms do not share the same mutations found in familial forms.
authors.affiliation: Endocrine Unit, Department of Medical Sciences, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, 20122 Milan, Italy. giovanna.mantovani@unimi.it
authors.forename: G
authors.initials: G
authors.lastname: Mantovani
authors.forename: S
authors.initials: S
authors.lastname: Bondioni
authors.forename: S
authors.initials: S
authors.lastname: Corbetta
authors.forename: L
authors.initials: L
authors.lastname: Menicanti
authors.forename: B
authors.initials: B
authors.lastname: Rubino
authors.forename: E
authors.initials: E
authors.lastname: Peverelli
authors.forename: P
authors.initials: P
authors.lastname: Labarile
authors.forename: C
authors.initials: C
authors.lastname: Dall'Asta
authors.forename: B
authors.initials: B
authors.lastname: Ambrosi
authors.forename: P
authors.initials: P
authors.lastname: Beck-Peccoz
authors.forename: A G
authors.initials: AG
authors.lastname: Lania
authors.forename: A
authors.initials: A
authors.lastname: Spada
mesh_terms: D000328:Adult; D000368:Aged; D015153:Blotting, Western; D002864:Chromogranins; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D014644:Genetic Variation; D006338:Heart Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009232:Myxoma / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D002864:Chromogranins; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D004273:DNA, Neoplasm; C517834:PRKAR1A protein, human; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs