Vikestrand Johannessen, Anna Parisa (2026) Prevalence of germline mutations in patients with pheochromocytoma or sympathetic paraganglioma a retrospective cohort study. thesis, Medicine.
Full text available on request.Abstract
Background: Pheochromocytomas and extra-adrenal (para)sympathetic paragangliomas are rare neuroendocrine tumors termed PPGL. Approximately 30% of PPGL cases are hereditary, with over 20 different susceptibility genes identified. The germline mutation is associated with tumor location, hormonal secretion pattern, prognosis, and associated tumors. However, data on the frequency and distribution of the germline mutations in either pheochromocytomas or sympathetic paragangliomas are limited due to the fact that these are usually not reported separately. Methods: In this retrospective observational cohort study, the prevalence of germline mutations was assessed in patients with pheochromocytoma or sympathetic paraganglioma treated at the University Medical Center Groningen. Data were extracted from the PARC database. Descriptive statistics summarized categorical and continuous variables. Results: Of the 116 patients, 94 had a pheochromocytoma and 22 had a sympathetic paraganglioma. Age at diagnosis and gender distribution did not differ between the two groups. Germline mutations were more common in patients with a sympathetic paraganglioma than in patients with a pheochromocytoma (50.0% vs. 27.8%, P < 0.05). The distribution of germline mutations differed significantly between the two groups (P < 0.001), with RET proto-oncogene mutations occurring in 52% of the patients with pheochromocytoma and SDHB mutations in 90.9% of patients with sympathetic paraganglioma. Plasma metanephrine concentrations were significantly higher in the pheochromocytoma group (P < 0.001), but there was no difference between the two groups in the plasma concentrations of normetanephrine or 3-methoxytyramine. Conclusion: The prevalence and distribution of germline mutations is significantly different between pheochromocytomas and sympathetic paragangliomas.
| Item Type: | Thesis (UNSPECIFIED) |
|---|---|
| Supervisor name: | Kerstens, Dr. M.N. and Schaafsma, M. |
| Faculty: | Medical Sciences |
| Date Deposited: | 16 Oct 2026 08:25 |
| Last Modified: | 16 Oct 2026 08:25 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/3968 |
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