PRKACA somatic mutations are rare in aldosterone-producing adenomas.

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Aldosterone-producing adenomas (APAs) cause a sporadic form of primary aldosteronism and somatic mutations in the KCNJ5 gene, which encodes the G-protein-activated inward rectifier K(+) channel 4, GIRK4, account for ≈40% of APAs. Additional somatic APA mutations were identified recently in 2 other genes, ATP1A1 and ATP2B3, encoding Na(+)/K(+)-ATPase 1 and Ca(2+)-ATPase 3, respectively, at a com...

Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas.

Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas.

Aldosterone-producing adenomas (APAs) are found in 1.5-3.0% of hypertensive patients in primary care and can be cured by surgery. Elucidation of genetic events may improve our understanding of these tumors and ultimately improve patient care. Approximately 40% of APAs harbor a missense mutation in the KCNJ5 gene. More recently, somatic mutations in CACNA1D, ATP1A1 and ATP2B3, also important for...

Activating mutations in CTNNB1 in aldosterone producing adenomas.

Primary aldosteronism (PA) is the most common cause of secondary hypertension with a prevalence of 5-10% in unreferred hypertensive patients. Aldosterone producing adenomas (APAs) constitute a large proportion of PA cases and represent a surgically correctable form of the disease. The WNT signaling pathway is activated in APAs. In other tumors, a frequent cause of aberrant WNT signaling is muta...

Aldosterone-Producing Adenomas

Unilateral primary aldosteronism (PA) is a common surgically curable cause of secondary hypertension. Adrenal glands removed for unilateral PA display histological heterogeneity. Recently, gain-of-function somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 have been found in 50% to 80% of aldosterone-producing adenomas (APAs). These gain-of-function mutations provide plausible mech...