In:
Otolaryngology–Head and Neck Surgery, Wiley, Vol. 137, No. 1 ( 2007-07), p. 126-129
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0194-5998
,
1097-6817
DOI:
10.1016/j.otohns.2007.01.015
Language:
English
Publisher:
Wiley
Publication Date:
2007
detail.hit.zdb_id:
2008453-5
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