Endocrinol Metab.  2017 Sep;32(3):332-338. 10.3803/EnM.2017.32.3.332.

CTNNB1 Mutation in Aldosterone Producing Adenoma

Affiliations
  • 1Division of Nephrology, Department of Internal Medicine, Chi Mei Medical Center, Liouying, Tainan City, Taiwan.
  • 2TAIPAI (Taiwan Primary Aldosteronism investigator), Taipei, Taiwan. q91421028@ntu.edu.tw
  • 3Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
  • 4Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.

Abstract

Discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas (APAs) with distinct clinical presentations and pathological features. Catenin β1 (CTNNB1) mutation in APAs has been recently described and discussed in the literature. However, significant knowledge gaps still remain regarding the prevalence, clinical characteristics, pathophysiology, and outcomes in APA patients harboring CTNNB1 mutations. Aberrant activation of the Wnt/β-catenin signaling pathway will further modulate tumorigenesis. We also discuss the recent knowledge of CTNNB1 mutation in adrenal adenomas.

Keyword

CBTNN1; KCNJ5; Primary aldosteronism; Aldosterone producing adenomas; Taiwan Primary Aldosteronism Investigator
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