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Updated: Jul 14, 2026
A Model for Perineural Invasion in Head and Neck Squamous Cell Carcinoma
Published on: January 5, 2017
Malignant head and neck paragangliomas in SDHB mutation carriers
Carsten Christof Boedeker1, Hartmut P H Neumann, Wolfgang Maier
1Department of Otorhinolaryngology-Head and Neck Surgery, University of Freiburg, Freiburg, Germany. boedeker@hno.ukl.uni-freiburg.de
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.
