SDHB基因变异携带者中的恶性头颈部副神经节瘤
Malignant head and neck paragangliomas in SDHB mutation carriers.
作者信息
Boedeker Carsten Christof, Neumann Hartmut P H, Maier Wolfgang, Bausch Birke, Schipper Jörg, Ridder Gerd Jürgen
机构信息
Department of Otorhinolaryngology-Head and Neck Surgery, University of Freiburg, Freiburg, Germany.
出版信息
Otolaryngol Head Neck Surg. 2007 Jul;137(1):126-9. doi: 10.1016/j.otohns.2007.01.015.
OBJECTIVE
Three of four paraganglioma syndromes (PGLs) have been characterized on a molecular genetic basis. PGL 1 is associated with mutations of the succinate dehydrogenase subunit D (SDHD) gene, PGL 3 is caused by SDHC gene mutations, and PGL 4 is caused by SDHB gene mutations. The objective of this study was to investigate whether PGLs are associated with malignant head and neck paragangliomas (HNPs).
STUDY DESIGN AND SETTING
Through November 2005, we screened 195 HNP patients for mutations of the genes SDHB, SDHC, and SDHD.
RESULTS
We detected 5 SDHC, 13 SDHB, and 45 SDHD gene mutations. In seven SDHB mutation carriers, there were distant metastases. No signs of metastases were found in SDHC and SDHD patients. One patient with a sporadic HNP presented with locally metastatic disease.
CONCLUSIONS
SDHB mutations are associated with a high rate of malignant HNPs.
SIGNIFICANCE
In SDHB patients, a three-body region imaging and scintigraphy or DOPA-PET must be performed to exclude metastases.
目的
四种副神经节瘤综合征（PGLs）中的三种已在分子遗传学基础上得到表征。PGL 1与琥珀酸脱氢酶亚基D（SDHD）基因突变相关，PGL 3由SDHC基因突变引起，PGL 4由SDHB基因突变引起。本研究的目的是调查PGLs是否与头颈部恶性副神经节瘤（HNPs）相关。
研究设计与背景
截至2005年11月，我们对195例HNP患者进行了SDHB、SDHC和SDHD基因突变筛查。
结果
我们检测到5例SDHC、13例SDHB和45例SDHD基因突变。在7例SDHB突变携带者中，存在远处转移。SDHC和SDHD患者未发现转移迹象。1例散发性HNP患者出现局部转移性疾病。
结论
SDHB突变与高比例的恶性HNPs相关。
意义
对于SDHB患者，必须进行三体区域成像和闪烁扫描或多巴PET检查以排除转移。
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