1General Surgery Department, James Cook University Hospital, England.
2Medical School, Misr University for Science and Technology, Egypt.
Endocr Regul. 2023 Jun 7;57(1):121-127. doi: 10.2478/enr-2023-0015. Print 2023 Jan 1.
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. We performed a retrospective review of our case in addition to reviewing the available literature on the same topic. 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. 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.
嗜铬细胞瘤和副神经节瘤是罕见的神经内分泌肿瘤,起源于肾上腺髓质或肾上腺外组织的嗜铬细胞。这些肿瘤的特征是儿茶酚胺的过度分泌,儿茶酚胺是导致疾病临床表现的原因。尽管这些肿瘤大多数是散发性的,但在多达 24%的病例中可能存在潜在的遗传异常。琥珀酸脱氢酶亚基 B (SDHB) 突变是该疾病的罕见表现之一。在这项研究中,我们报告了一例与 SDHB 突变相关的嗜铬细胞瘤的罕见病例。我们对我们的病例进行了回顾性审查,并对同一主题的现有文献进行了回顾。一名 17 岁的患者出现持续性高血压。临床、实验室和影像学评估证实了儿茶酚胺分泌肿瘤的诊断。进行了腹腔镜肾上腺切除术。组织病理学和基因检测证实为与 SDHB 突变相关的嗜铬细胞瘤。在两年的随访中未发现复发。与 SDHB 突变相关的嗜铬细胞瘤是一种罕见的表现。对可疑病例进行基因检测对于制定适当的随访计划至关重要。