In patients with unilateral primary aldosteronism undergoing adrenalectomy, KCNJ5 somatic mutations were associated with better surgical outcomes, with 55.1% of mutant patients achieving complete remission.
Cohort (n=100)
Does the presence of KCNJ5 mutations and specific pathological subtypes predict better surgical outcomes in patients with unilateral primary aldosteronism?
KCNJ5 somatic mutations and CYP11B2 mono-positivity are associated with better postoperative clinical remission and reduced antihypertensive requirements in patients with unilateral primary aldosteronism.
Objective: To investigate the correlations of KCNJ5 gene mutations and pathological subtypes based on CYP11B1/CYP11B2 immunohistochemistry with clinical characteristics and postoperative outcomes in patients with unilateral primary aldosteronism undergoing adrenalectomy. Design and method: A retrospective analysis was conducted on 100 primary aldosteronism patients who underwent unilateral adrenalectomy. Sanger sequencing was performed to detect KCNJ5 mutations, and postoperative tissues were subtyped via CYP11B1/CYP11B2 immunohistochemistry. Associations between these molecular markers and baseline clinical parameters, biochemical profiles, and surgical outcomes were analyzed. Results: A total of 100 patients were included in the final analysis, aged (51.1±11.0) years, including 35 females (35%). The somatic KCNJ5-mutation rate was 69%, with 69 KCNJ5-mutant and 31 wild-type cases. Compared to wild-type patients, KCNJ5 mutant patients were younger, had a higher female proportion, exhibited lower preoperative renin levels, and had a higher rate of complete clinical remission. Among KCNJ5-mutant patients, 38 achieved complete remission and 31 achieved partial remission. The complete remission group demonstrated younger age years, shorter hypertension duration, higher preoperative plasma and urinary aldosterone levels, greater lateralization index, fewer baseline antihypertensive defined daily dose, and larger tumor diameter. Immunohistochemical subtyping revealed CYP11B2 mono-positivity in 24 mutant cases and CYP11B1/CYP11B2 co-expression in 45 cases. The CYP11B2 mono positive group showed more pronounced postoperative reduction in antihypertensive defined daily dose, though no significant difference in complete remission rates was observed. Conclusions: In patients with unilateral primary aldosteronism, those carrying KCNJ5 somatic mutations exhibit characteristics such as younger age and a higher proportion of females compared to wild-type patients, along with significantly better surgical outcomes. Moreover, among patients with KCNJ5 mutations, those whose pathological subtype shows pure CYP11B2 expression demonstrate a more pronounced reduction in postoperative antihypertensive defined daily dose than those with co-expression of CYP11B1/CYP11B2.
Ma et al. (Fri,) conducted a cohort in Unilateral primary aldosteronism (n=100). KCNJ5 somatic mutations vs. Wild-type KCNJ5 was evaluated on Complete clinical remission. In patients with unilateral primary aldosteronism undergoing adrenalectomy, KCNJ5 somatic mutations were associated with better surgical outcomes, with 55.1% of mutant patients achieving complete remission.