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DOI 10.2478/enr-2023-0015

Медицинская библиотека · Endocrine regulations · 2023

Pheochromocytoma associated with a succinate dehydrogenase subunit B mutation: A minireview and a case report.

Rezkallah Emad, Elsaify Andrew, Martin Victorino, Viva Laura, Nag Sath, Green Barnabas, Cheesman Matthew, Elsaify Wael

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Аннотация

Objective. Pheochromocytomas and paragangliomas are rare neuroendocrine tumors that arise from the chromaffin cells of the adrenal medulla or extra-adrenal tissues. These tumors are characterized by an excessive secretion of catecholamines, which are responsible for the clinical manifestation of the disease. Although most of these tumors are sporadic, underlying genetic abnormalities may be present in up to 24% of the cases. A succinate dehydrogenase subunit B (SDHB) mutation represents one of the rare presentations of the disease. In this study, we represent a rare case of pheochromocytoma associated with SDHB mutation. Methods. We performed a retrospective review of our case in addition to reviewing the available literature on the same topic. Results. A 17-year-old patient presented with sustained hypertension. Clinical, laboratory, and radiological evaluations confirmed the diagnosis of catecholamine-secreting tumor. Laparoscopic adrenalectomy was performed. Histopathological and genetic testing confirmed a pheochromocytoma associated with SDHB mutation. No recurrence was detected on two-years of follow up. Conclusion. Pheochromocytoma associated with SDHB mutation is a rare presentation. Genetic testing for suspecting cases is essential to help to establish the appropriate follow-up plan.

Для цитирования: Rezkallah Emad, Elsaify Andrew, Martin Victorino, Viva Laura, Nag Sath, Green Barnabas, Cheesman Matthew, Elsaify Wael. Pheochromocytoma associated with a succinate dehydrogenase subunit B mutation: A minireview and a case report.. Endocrine regulations. 2023. DOI: 10.2478/enr-2023-0015.

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