ArticleThe Journal of clinical endocrinology and metabolism2020
Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Cortisol Co-Secretion and Clinical Usefulness of ACTH Stimulation Test in Primary Aldosteronism: A Systematic Review and Biases in Epidemiological Studies.Frontiers in endocrinology · 2021Pooled it
- ACTH Stimulation Maximizes the Accuracy of Peripheral Steroid Profiling in Primary Aldosteronism Subtyping.The Journal of clinical endocrinology and metabolism · 2021Trial
- Targeting Plasma Membrane CaCancers · 2026Review
- Primary aldosteronism.Nature reviews. Disease primers · 2026Review
- Increased Frequency and Distinct Genotypic Patterns of Somatic Aldosterone-Driver Mutations in Aldosterone-Producing Micronodules from Primary Aldosteronism Patients.Endocrine pathology · 2026Article
- Primary aldosteronism in South Asia: insights from a tertiary outpatient cohort in Bangladesh.Endocrine connections · 2026Article
- Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.Archives of endocrinology and metabolism · 2025Article
- Review
- Comparison of the clinical significance of lymphocyte-based inflammatory indices between the two major subtypes of primary aldosteronism.Endocrine · 2025Article
- Sexual dimorphism in benign adrenocortical tumours.European journal of endocrinology · 2025Review
- Multiomics analysis unveils the cellular ecosystem with clinical relevance in aldosterone-producing adenomas withProceedings of the National Academy of Sciences of the United States of America · 2025Article
- SomaticHypertension (Dallas, Tex. : 1979) · 2024Article
- Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.The Journal of clinical endocrinology and metabolism · 2024Article
- Unilateral Primary Aldosteronism: Long-Term Disease Recurrence After Adrenalectomy.Hypertension (Dallas, Tex. : 1979) · 2024Article
- Shifting paradigms in primary aldosteronism: reconsideration of screening strategy via integrating pathophysiological insights.Frontiers in endocrinology · 2024Review
- Double somatic mutations inFrontiers in endocrinology · 2024Article
- Identifying primary aldosteronism patients who require adrenal venous sampling: a multi-center study.Scientific reports · 2023Article
- Article
- KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.Hypertension research : official journal of the Japanese Society of Hypertension · 2023Article
- Cardiovascular and metabolic characters ofFrontiers in endocrinology · 2023Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
contextResults of previous studies demonstrated clear racial differences in the prevalence of somatic mutations among patients with aldosterone-producing adenoma (APA). For instance, those in East Asian countries have a high prevalence of somatic mutations in KCNJ5, whereas somatic mutations in other aldosterone-driving genes are rare.
objectivesTo determine somatic mutation prevalence in Japanese APA patients using an aldosterone synthase (CYP11B2) immunohistochemistry (IHC)-guided sequencing approach.
methodPatients with a unilateral form of primary aldosteronism who underwent adrenalectomy at the Tohoku University Hospital were studied. Based on CYP11B2 immunolocalization of resected adrenals, genomic DNA was isolated from the relevant positive area of 10% formalin-fixed, paraffin-embedded tissue of the APAs. Somatic mutations in aldosterone-driving genes were studied in APAs by direct Sanger sequencing and targeted next-generation sequencing.
resultsCYP11B2 IHC-guided sequencing determined APA-related somatic mutations in 102 out of 106 APAs (96%). Somatic KCNJ5 mutation was the most frequent genetic alteration (73%) in this cohort of Japanese patients. Somatic mutations in other aldosterone-driving genes were also identified: CACNA1D (14%), ATP1A1 (5%), ATP2B3 (4%), and CACNA1H (1%), including 2 previously unreported mutations. KCNJ5 mutations were more often detected in APAs from female patients compared with those from male patients [95% (36/38) vs 60% (41/68); P < 0.0001].
conclusionIHC-guided sequencing defined somatic mutations in over 95% of Japanese APAs. While the dominance of KCNJ5 mutations in this particular cohort was confirmed, a significantly higher KCNJ5 prevalence was detected in female patients. This study provides a better understanding of genetic spectrum of Japanese APA patients.
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