Liao, Hung-WeiHung-WeiLiaoPeng, Kang-YungKang-YungPengVIN-CENT WUYEN-HUNG LINSHUEI-LIONG LINWEI-CHOU LINSHIH-CHIEH CHUEHOn Behalf Of Taipai Study Group, nullnullOn Behalf Of Taipai Study Group2022-06-202022-06-202021-09-212072-6694https://scholars.lib.ntu.edu.tw/handle/123456789/613120In patients with primary aldosteronism (PA), the prevalence of ATP2B3 mutation is rare. The aim of this study is to report a novel ATP2B3 mutation in a PA patient. Based on our tissue bank of aldosterone-producing adenomas (APA), we identified a novel somatic ATP2B3 K416_F418delinsN mutation. The affected individual was a 53 year-old man with a 4 year history of hypertension. Computed tomography (CT) showed bilateral adrenal masses of 1.6 (left) and 0.5 cm (right) in size. An adrenal venous sampling (AVS) showed a lateralization index (LI) of 2.2 and a contralateral suppression index (CLS) of 0.12; indicating left functional predominance. After a left unilateral adrenalectomy, he achieved partial biochemical and hypertension-remission. This classical adenoma harbored a novel ATP2B3 K416_F418delinsN somatic mutation, which is a deletion from nucleotides 1248 to 1253. The translated amino acid sequence from 416 to 418, reading as lysine-phenylalanine-phenylalanine, was deleted; however, an asparagine was inserted due to merging of residual nucleotide sequences. The CYP11B2 immunohistochemistry staining demonstrated strong immunoreactivity in this classical adenoma. The ATP2B3 K416_F418delinsN mutation is a functional mutation in APA, since HAC15 cells, a human adrenal cell line, transfected with the mutant gene showed increased CYP11B2 expression and aldosterone production.enATP2B3; K416-F418delinsN mutation; aldosterone producing adenoma; primary aldosteronismjournal article10.3390/cancers13184729345729562-s2.0-85115187652WOS:000699445000001