F933>X67 SDHD突变所致遗传性副神经节瘤综合征的诊断与管理
Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.
作者信息
Marvin Monica L, Bradford Carol R, Sisson James C, Gruber Stephen B
机构信息
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
出版信息
Head Neck. 2009 May;31(5):689-94. doi: 10.1002/hed.20930.
BACKGROUND
The hereditary paraganglioma syndromes (PGLs) are autosomal dominant conditions with an increased risk for tumors of the sympathetic and parasympathetic neuroendocrine systems. The recognition of patients with hereditary PGL and identification of the responsible gene are important for the management of index patients and family members.
METHODS
We present the clinical, radiological, biochemical, and family history findings of a 15-year-old boy patient with a glomus vagale versus glomus jugulare tumor.
RESULTS
Evaluation of the family history and the patient's history led to the identification of a familial succinate dehydrogenase subunit D (SDHD) gene mutation (F933>X67), consistent with a diagnosis of hereditary PGL1. Although this family had all head and neck tumors, this SDHD mutation has previously been described in a family with primarily functional pheochromocytomas.
CONCLUSIONS
This case report highlights the variable expressivity of a single mutation in SDHD, (F933>X67). Careful and comprehensive screening is warranted for individuals at risk.
背景
遗传性副神经节瘤综合征（PGLs）是常染色体显性疾病，交感和副交感神经内分泌系统肿瘤风险增加。识别遗传性PGL患者并确定致病基因对于索引患者及其家庭成员的管理很重要。
方法
我们展示了一名15岁患有迷走神经球瘤与颈静脉球瘤的男性患者的临床、放射学、生化和家族史检查结果。
结果
对家族史和患者病史的评估导致发现了家族性琥珀酸脱氢酶亚基D（SDHD）基因突变（F933>X67），符合遗传性PGL1的诊断。尽管这个家族所有肿瘤均位于头颈部，但该SDHD突变先前曾在一个主要为功能性嗜铬细胞瘤的家族中被描述过。
结论
本病例报告强调了SDHD中单一突变（F933>X67）的可变表达性。对有风险的个体进行仔细和全面的筛查是必要的。
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