Somatic mutations result in excess aldosterone production and are reported to be more common in Asia than elsewhere. To assess the prevalence of somatic mutations in Thai patients with aldosterone-producing adrenal adenomas (APAs) in a single tertiary center, we analyzed the paraffin-embedded tissue of mutations from 96 patients with sporadic APAs who underwent unilateral laparoscopic adrenalectomy at our center during 2007 to 2016. We also assessed the clinical characteristics, treatment outcomes, and biochemistry and histologic differences among patients with and without somatic mutations. Of the 96 patients with APA, 67 (70%) had somatic mutations of the gene: 39 patients with p.G151R, 26 patients with p.L168R, one patient with p.T158A, and one patient with p.W126R. All patients presented with hypertension. Hypokalemia was documented in 98% of patients. The hypertension cure rate at 1 year after surgery was 35%. Patients with somatic mutations required more potassium supplementation and had adrenal histology compatible with zona fasciculata-like cells compared with patients without the mutations (all < 0.05). There were no significant differences in preoperative plasma aldosterone concentration (PAC), plasma renin activity, aldosterone/renin ratio, potassium level, treatment of hypertension, tumor size, and hypertension cure rate among patients in the -mutant and nonmutant groups. In a multivariate analysis, a higher PAC was associated with the presence of somatic mutations. In summary, the prevalence of somatic mutations in patients with sporadic APAs in Thailand, an Asian country with residents of different ethnic backgrounds, is comparable to previous reports in Asia.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162598 | PMC |
http://dx.doi.org/10.1210/js.2018-00097 | DOI Listing |
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