Malignant head and neck paragangliomas in SDHB mutation carriers
Malignant head and neck paragangliomas in SDHB mutation carriers
复制标题
DOI：
10.1016/j.otohns.2007.01.015
复制
发表时间：
2007-07-01
影响因子：
3.4
通讯作者：
Ridder, Gerd J. rgen
中科院分区：
文献类型：
--
作者：
Boedeker, Carsten Christof;Neumann, Hartmut P. H.;Ridder, Gerd J. rgen
目的：四分之三的副神经节瘤综合征（PGLs）已经在分子遗传学基础上被表征。PGL 1与琥珀酸脱氢酶亚基D （SDHD）基因突变有关，PGL 3由SDHC基因突变引起，PGL 4由SDHB基因突变引起。本研究的目的是探讨pgl是否与恶性头颈部副神经节瘤（HNPs）相关。研究设计和背景：截至2005年11月，我们筛选了195名HNP患者的SDHB、SDHC和SDHD基因突变。结果：检测到5个SDHC、13个SDHB和45个SDHD基因突变。7例SDHB突变携带者存在远处转移。在SDHC和SDHD患者中未发现转移迹象。1例散发性HNP患者表现为局部转移性疾病。结论：SDHB突变与高恶性HNPs发生率相关。意义：在SDHB患者中，必须进行三体区域成像和显像或DOPA-PET来排除转移。(C) 2007年美国耳鼻喉头颈外科学会基金会。版权所有。
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. (C) 2007 American Academy of Otolaryngology-Head and Neck Surgery Foundation. All rights reserved.