<abstract xmlns="http://www.w3.org/1999/xhtml">

<bold>Objective.</bold> 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.
<bold>Methods.</bold> We performed a retrospective review of our case in addition to reviewing the available literature on the same topic.
<bold>Results.</bold> 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.
<bold>Conclusion.</bold> 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.
</abstract>

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.

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

Misr University for Science and Technology

Endocrine Regulations

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Objective. Pheochromocytomas and paragangliomas are rare neuroendocrine tumors that arise from the chromaffin cells of the adrenal medulla or extra-adrenal...

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

Published Online: Jun 07, 2023

Page range: 121 - 127

DOI: https://doi.org/10.2478/enr-2023-0015

Keywords
pheochromocytoma, pediatric, succinate dehydrogenase subunit B mutation, presentation, adrenalectomy

© 2023 Emad Rezkallah et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Published Online: Jun 07, 2023

Page range: 121 - 127

DOI: https://doi.org/10.2478/enr-2023-0015

Keywordspheochromocytoma, pediatric, succinate dehydrogenase subunit B mutation, presentation, adrenalectomy

© 2023 Emad Rezkallah et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
pheochromocytoma, pediatric, succinate dehydrogenase subunit B mutation, presentation, adrenalectomy