Why the study?
The correlation of genotypic and pathological characteristics in unilateral multiple nodules of primary aldosteronism remains unknown.
Countable nodules in unilateral primary aldosteronism exhibit great heterogeneity and can be considered multiple aldosterone-producing adenomas featuring somatic KCNJ5 mutations and positive CYP11B2 staining.
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Heterogeneity in CYP11B2/CYP11B1 expression supports multiple APA model in unilateral PA; hypothesis-generating for KCNJ5-guided management.
Objective: Unilateral primary aldosteronism (PA) includes aldosterone-producing adenoma (APA), unilateral adrenal hyperplasia, and unilateral multiple nodules. The correlation of multiple nodules, especially genotypic and pathological characteristics, remains unknown. KCNJ5 mutation accounts for 60-80% of unilateral PA, so we aimed to explore the correlation of KCNJ5 somatic mutation and CYP11B1/CYP11B2 staining in multiple nodules in unilateral PA. Design and Methods: A total of 56 microdissected nodules from 24 patients with unilateral PA were included. We assessed somatic KCNJ5 mutations, immunohistochemistry for aldosterone synthase (CYP11B2)/cortisol synthase (CYP11B1), and histological cellular composition of nodules together with adjacent adrenal cortical statements. CYP11B2/CYP11B1 expression patterns revealed great heterogeneity in intensity and range both in KCNJ5-mutant nodules and KCNJ5-WT ones. Conclusion: There is great heterogeneity among nodules from patients with unilateral PA. Countable nodules could be considered as multiple APAs, featuring somatic KCNJ5 mutation, positive CYP11B2 staining, and lack of adjacent cortical proliferation in unilateral multiple nodules.
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Xie et al. (2022) studied this question.
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