1. Cortisol-producing adenoma-related somatic mutations in unilateral primary aldosteronism with concurrent autonomous cortisol secretion: their prevalence and clinical characteristics.
- Author
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Wan-Chen Wu, Kang-Yung Peng, Jin-Ying Lu, Chieh-Kai Chan, Chih-Yuan Wang, Fen-Yu Tseng, Wei-Shiung Yang, Yen-Hung Lin, Po-Chih Lin, Ting-Chu Chen, Kuo-How Huang, Chueh, Jeff S., and Vin-Cent Wu
- Subjects
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SOMATIC mutation , *HYPERALDOSTERONISM , *HYDROCORTISONE , *SECRETION , *ADRENALECTOMY , *ADRENAL insufficiency - Abstract
Objective: Concurrent autonomous cortisol secretion (ACS) in patients wit h primary aldosteronism (PA) is being reported more frequently. Several somatic mutations including PRKACA, GNAS, and CTNNB1 were identified in cortisolproducing adenomas (CPAs). The presence of these mutations in u nilateral PA (uPA) patients concurrent with ACS (uPA/ACS) is not well known. This study aimed to investigate the prevalence of these mutations and their clinical vs pathological characteristics in uPA/ACS. Design: This is a retrospective cohort study. Methods: Totally 98 uPA patients from the Taiwan Primary Aldosteronism Investigation registry having overnight 1-mg dexamethasone suppression test (DST) and adrenalectomy from 201 6 to 2018 were enrolled. Their adrenal tumors were tested for PRKACA, GNAS, and CTNNB1 mutations. Results: 11 patients had CPA-related mutations (7 PRKACA and 4 GNAS). The patients carrying these mutations had higher post-DST cortisol (5.6 vs 2.6 µg/dL, P = 0.003) and larger adenoma (2.2 ± 0.3 vs 1.9 ± 0.7 cm, P = 0.025). Adenomas with these mutations had a higher prevalence of non-cl assical uPA (72.7% vs 26.3%, P = 0.014). Numerically, slightly more complete clinical success of uPA patients with these mutations was noticed after adrenalectomy, although it was statistically non-significant. Post-DST cortisol levels, adenoma size >1.9 cm, and the interaction of adenoma size >1.9 cm with potassium level were found to be associated with the presence of these mutations. Conclusion: Our study showed that CPA-related mutations were detected in 36.7% of uPA/ACS adenomas. The presence of these mutations was associated with higher post-DST cortisol levels, larger adenoma sizes, and a high percentage of non-classical uPA. However, these mutations did not significa ntly affect the clinical and biochemical outcomes after adrenalectomy of uPA/ACS patients but they showed a better tren d. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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