Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism
Pheochromocytoma is a rare form of adrenal hypertension. This study aimed to investigate the clinical characteristics and associated genetic mutations in patients with pheochromocytoma and primary aldosteronism. We retrospectively analyzed data from 23 patients with pheochromocytoma diagnosed and tr...
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The Japan Endocrine Society
2025-02-01
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| Series: | Endocrine Journal |
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| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/72/2/72_EJ24-0150/_html/-char/en |
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| author | Xurong Mai Mitsuhiro Kometani Toshiaki Kato Ko Aiga Shigehiro Karashima Daisuke Aono Seigo Konishi Koshiro Nishimoto Kazuyoshi Hosomichi Atsushi Watanabe Yuko Noda Yoshiyu Takeda Takashi Yoneda |
| author_facet | Xurong Mai Mitsuhiro Kometani Toshiaki Kato Ko Aiga Shigehiro Karashima Daisuke Aono Seigo Konishi Koshiro Nishimoto Kazuyoshi Hosomichi Atsushi Watanabe Yuko Noda Yoshiyu Takeda Takashi Yoneda |
| author_sort | Xurong Mai |
| collection | DOAJ |
| description | Pheochromocytoma is a rare form of adrenal hypertension. This study aimed to investigate the clinical characteristics and associated genetic mutations in patients with pheochromocytoma and primary aldosteronism. We retrospectively analyzed data from 23 patients with pheochromocytoma diagnosed and treated between 2011 and 2022. Three cases were complicated by primary aldosteronism. Compared to 15 other patients without primary aldosteronism complications, these three patients had a greater suppression of plasma renin activity (0.2 vs. 2.3 ng/mL/h, p < 0.01) and a higher aldosterone-to-renin ratio (p < 0.01). No significant differences were found in blood pressure, serum potassium levels, or plasma aldosterone concentrations between the two groups. In genetic analysis, among the three patients with pheochromocytoma and primary aldosteronism, two had a KCNJ5 (G151R) mutation in the pheochromocytoma tumor tissues. However, no CYP11B2- or CYP11B1-positive cells were detected via immunostaining in the pheochromocytoma tissues of these three patients. To our knowledge, this is the first study to reveal the presence of the KCNJ5 mutation, commonly considered specific to primary aldosteronism, in pheochromocytoma cases clinically complicated by primary aldosteronism. The findings suggest that patients with pheochromocytoma and suppressed plasma renin activity should be assessed for primary aldosteronism. |
| format | Article |
| id | doaj-art-6a7d4719e85c498caacdf164cf7ea960 |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-6a7d4719e85c498caacdf164cf7ea9602025-02-03T01:08:32ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402025-02-0172219320310.1507/endocrj.EJ24-0150endocrjClinical comparison and genetic analysis in pheochromocytoma with primary aldosteronismXurong Mai0Mitsuhiro Kometani1Toshiaki Kato2Ko Aiga3Shigehiro Karashima4Daisuke Aono5Seigo Konishi6Koshiro Nishimoto7Kazuyoshi Hosomichi8Atsushi Watanabe9Yuko Noda10Yoshiyu Takeda11Takashi Yoneda12Department of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Uro-Oncology, International Medical Center Saitama Medical University, Saitama 350-1298, JapanLaboratory of Computational Genomics, Tokyo University of Pharmacy and Life Sciences, Tokyo 192-0392, JapanDivision of Clinical Genetics, Kanazawa University Hospital, Ishikawa 920-8640, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanDepartment of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, JapanPheochromocytoma is a rare form of adrenal hypertension. This study aimed to investigate the clinical characteristics and associated genetic mutations in patients with pheochromocytoma and primary aldosteronism. We retrospectively analyzed data from 23 patients with pheochromocytoma diagnosed and treated between 2011 and 2022. Three cases were complicated by primary aldosteronism. Compared to 15 other patients without primary aldosteronism complications, these three patients had a greater suppression of plasma renin activity (0.2 vs. 2.3 ng/mL/h, p < 0.01) and a higher aldosterone-to-renin ratio (p < 0.01). No significant differences were found in blood pressure, serum potassium levels, or plasma aldosterone concentrations between the two groups. In genetic analysis, among the three patients with pheochromocytoma and primary aldosteronism, two had a KCNJ5 (G151R) mutation in the pheochromocytoma tumor tissues. However, no CYP11B2- or CYP11B1-positive cells were detected via immunostaining in the pheochromocytoma tissues of these three patients. To our knowledge, this is the first study to reveal the presence of the KCNJ5 mutation, commonly considered specific to primary aldosteronism, in pheochromocytoma cases clinically complicated by primary aldosteronism. The findings suggest that patients with pheochromocytoma and suppressed plasma renin activity should be assessed for primary aldosteronism.https://www.jstage.jst.go.jp/article/endocrj/72/2/72_EJ24-0150/_html/-char/enkcnj5next-generation sequencingpheochromocytomaprimary aldosteronism |
| spellingShingle | Xurong Mai Mitsuhiro Kometani Toshiaki Kato Ko Aiga Shigehiro Karashima Daisuke Aono Seigo Konishi Koshiro Nishimoto Kazuyoshi Hosomichi Atsushi Watanabe Yuko Noda Yoshiyu Takeda Takashi Yoneda Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism Endocrine Journal kcnj5 next-generation sequencing pheochromocytoma primary aldosteronism |
| title | Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism |
| title_full | Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism |
| title_fullStr | Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism |
| title_full_unstemmed | Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism |
| title_short | Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism |
| title_sort | clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism |
| topic | kcnj5 next-generation sequencing pheochromocytoma primary aldosteronism |
| url | https://www.jstage.jst.go.jp/article/endocrj/72/2/72_EJ24-0150/_html/-char/en |
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