AB203. The mutational landscapes of adrenal cortex aldosterone-producing adenoma (APA) diversified between different populations

Abstract

ObjectiveThe genetic determinants of aldosterone-producing adrenal adenoma (APA), one of the most common causes of secondary hypertension, had been studied intensively in European patients but its mutational landscapes in Asian populations remained unclear. We aim to further understand the genetic determinants of APA in East Asian patients.MethodsWe perform Whole-exome sequencing and comprehensive data analyses in tumors and matched normal tissues from 22 Chinese APA patients.ResultsNotably, we identified KCNJ5 as an ultra-high frequency mutation gene (72.7%) in our cohort compared with previous studies, which highlights the importance of KCNJ5 mutations in the diagnosis and targeted therapy for East Asian APA patients. We also identified somatic mutations in another potassium channel gene and other four cancer relative genes in our APA cohort.ConclusionsThese findings extend our knowledge about the genetic mechanism of APA development and would contribute to the diagnosis and targeted therapy for East Asian APA patients.