Tufts Medical Center, Department of Otolaryngology - Head and Neck Surgery, Boston, Massachusetts 02111, USA.
Head Neck. 2013 Aug;35(8):E251-3. doi: 10.1002/hed.23098. Epub 2012 Aug 21.
Paragangliomas are benign neoplasms of neuroendocrine origin. It is estimated that from 20% to 50% of these tumors are familial. Mutations in the succinate dehydrogenase (SDH) gene family have been found to be responsible for a significant percentage of familial paragangliomas.
A 33-year-old man who was found to have 3 synchronous primary tumors including a catecholamine-secreting intrapericardial paraganglioma is presented.
Genetic workup diagnosed this patient with an underlying germ-line mutation in the succinate dehydrogenase complex subunit C (SDHC) gene; consistent with a diagnosis of hereditary paraganglioma/pheochromocytoma syndrome (PGL/PCC). Current knowledge regarding the clinical implications of an SDHC gene mutation is reviewed.
Modern molecular techniques have identified that a significantly greater proportion of paragangliomas are due to underlying hereditary conditions than was previously thought. Appropriate screening in these individuals and their immediate family members may allow for early tumor diagnosis and improved disease outcomes.
副神经节瘤是神经内分泌来源的良性肿瘤。据估计，这些肿瘤中有 20%到 50%是家族性的。琥珀酸脱氢酶（SDH）基因突变已被发现是导致相当一部分家族性副神经节瘤的原因。
我们介绍了一位 33 岁的男性患者，他被发现同时患有 3 个原发性肿瘤，包括一个分泌儿茶酚胺的心包内副神经节瘤。
基因检测诊断该患者存在琥珀酸脱氢酶复合物亚单位 C（SDHC）基因突变，符合遗传性副神经节瘤/嗜铬细胞瘤综合征（PGL/PCC）的诊断。本文回顾了关于 SDHC 基因突变的临床意义的现有知识。
现代分子技术已经确定，与之前的想法相比，副神经节瘤中有更大比例的肿瘤是由潜在的遗传条件引起的。对这些患者及其直系亲属进行适当的筛查可能有助于早期发现肿瘤并改善疾病结局。
