Recent development of genetic analysis has revealed the molecular characteristics of aldosterone-producing adrenocortical lesions, including gene mutations of KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, CTNNB1, and CLCN2. In addition, CYP11B2-based immunohistochemical analysis has made it possible to classify non-neoplastic lesions of primary aldosteronism (PA) into two distinct histological subtypes based on the localization of aldosterone-producing cells: multiple adrenocortical micronodules (MN) and diffuse hyperplasia of zona glomerulosa (DH). Among MNs, CACNA1D somatic mutation was most frequently detected in 60–80% of micronodules. The number and size of those CYP11B2-positive cell clusters/micronodules could therefore contribute to the pathogenesis or development of hyperaldosteronism. In addition, this newly developed histology- and genetics-based classification of non-neoplastic PA lesions have enabled the precise identification of the responsible lesions of aldosterone excess and enormous improvement of postoperative clinical management of patients with adrenocortical disorders.
|Number of pages
|Current Opinion in Endocrine and Metabolic Research
|Published - 2019 Oct
- Next-generation sequencing (NGS)
- Primary aldosteronism