Molecular Heterogeneity in Aldosterone-Producing Adenomas.
Ann Arbor, United States. In J Clin Endocrinol Metab, Feb 2016
Of the six adrenocortical adenomas with CYP11B2 heterogeneity, three had aldosterone-regulating mutations (CACNA1D p.F747C, KCNJ5 p.L168R, ATP1A1 p.L104R) only in CYP11B2 positive regions, and one had two different mutations localized to two histologically distinct CYP11B2 positive regions (ATP2B3 p.L424_V425del, KCNJ5 p.G151R).
GNAS mutations in adrenal aldosterone-producing adenomas.
Maebashi, Japan. In Endocr J, Feb 2016
Our results suggest that these mutations, in addition to mutations in the KCNJ5 gene and other genes such as ATP1A1, ATP2B3 and CACNA1D, may be responsible for the tumorigenesis of APAs and CPAs with subclinical Cushing's syndrome.
ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.
Paris, France. In Eur J Endocrinol, Feb 2016
Exome sequencing identified new major drivers in all tumor types, including KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in aldosterone producing adenomas (APA), PRKACA mutations in cortisol producing adenomas (CPA), ARMC5 mutations in primary bilateral macronodular adrenocortical hyperplasia (PBMAH), and ZNRF3 mutations in adrenocortical carcinomas (ACC).
Clinicopathologic Correlates of Primary Aldosteronism.
In Arch Pathol Lab Med, Jul 2015
Recently, the molecular basis of primary aldosteronism has begun to be unraveled, with the discovery of mutations in potassium channel (KCNJ5), ATPases (ATP1A1, ATP2B3), and calcium channel (CACNA1D), and aberrant Wnt/β-catenin signaling.
An update on novel mechanisms of primary aldosteronism.
Paris, France. In J Endocrinol, Feb 2015
Recurrent somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and ATPases (ATP1A1 and ATP2B3) regulating intracellular ionic homeostasis and cell membrane potential have been identified in APA.