Somatic Drivers in Aldosterone-producing Adenomas and Nodules: Insights from a Brazilian Cohort of Primary Aldosteronism
Authors' conclusion
We confirmed the predominance of known somatic drivers and identified a uniquely high frequency of ATP2B3 variants, refining their clinical phenotype. These findings underscore the influence of population-specific genetic backgrounds and expand the global understanding of PA genetics.
Study context
- Population
- Consecutive patients with primary aldosteronism (PA) and classical histology of aldosterone-producing adenomas (APAs) and APNs, Brazilian cohort; median age at PA diagnosis 49 years, 59% women
- Participants
- 61 patients62 lesions
- Outcome
- Somatic pathogenic variants in lesions
Methodological detailsconsecutive patients, CYP11B2 immunostaining (HISTALDO consensus), Sanger sequencing followed by whole-exome sequencing
- Consecutive patients
- CYP11B2 immunostaining (HISTALDO consensus)
- Sanger sequencing followed by whole-exome sequencing
Main finding
As reported in the abstract
- Any somatic pathogenic variant
- 82.26%
- KCNJ5
- n = 35, 56.45%
- ATP2B3
- n = 7, 11.29%
- CACNA1D
- n = 5, 8.06%
- ATP1A1
- n = 4, 6.45%
- ATP2B3 frequency vs other cohorts of different ethnicities (4.06%)
- 11.29%, p = .0053
Observational data: associations, not effects.
Further findings
Histopathological subtype
- Combined APA + aldosterone-producing micronodules
- n = 29, 47.54%
- Isolated APA
- n = 20, 32.79%
- APN
- n = 5, 8.2%
Novel variants
- Novel variants identified
- 9
- ATP2B3 (2 exon 8 in-frame deletions, 1 missense)
- 3
- KCNJ5
- 3
- CACNA1D
- 2
- CTNNB1
- 1
ATP2B3-mutated tumour phenotype
- ATP2B3-mutated tumours occurred predominantly in older men and were smaller vs wild-type tumours
Rare germline CACNA1H variants
- Patients with rare germline CACNA1H variants
- 3
Original publication
Somatic Drivers in Aldosterone-producing Adenomas and Nodules: Insights from a Brazilian Cohort of Primary Aldosteronism. J Clin Endocrinol Metab. Published 7 January 2026. doi:10.
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