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ea0077oc4.2 | Adrenal and Cardiovascular | SFEBES2021

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Argentesi Giulia , Azizan Elena , Zhou Junhua , Cabrera Claudia , O’Toole Sam , Wu Xilin , Goodchild Emily , Cottrell Emily , Marker Alison , Senanayake Russell , Garg Sumedha , Jordan Suzanne , Berney Dan , Gluck Anna , Lines Kate , Thakker Rajesh V , Tuthill Antoinette , Joyce Caroline , Karet Frankl Fiona , Metherell Lou , Teo Ada , Gurnell Mark , Parvanta Laila , Drake William , Wozniak Eva , Mein Chaz , Kinsler Veronika , Storr Helen , Brown Morris

Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell-clusters of normal adrenals could suggest the existence of co-driver mutations which influence the development or phenotype of APAs [1]. Gain-of-function mutations in both CTNNB1 and the G-protein coupled receptor GNA11 were found by whole exome sequencing in 3/10 APAs. Further sequencing of...

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Endocrine Abstracts

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

BiosciAbstracts