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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
Summary
Succinate dehydrogenase subunit B (SDHB) gene mutations are linked to malignant head and neck paragangliomas (HNPs). Patients with SDHB mutations require imaging to detect potential metastases.
Area of Science:
- Genetics
- Oncology
- Endocrinology
Background:
- Paraganglioma syndromes (PGLs) are genetic disorders affecting neuroendocrine tumors.
- PGL 1, 3, and 4 are linked to mutations in SDHD, SDHC, and SDHB genes, respectively.
- The association between PGLs and malignant head and neck paragangliomas (HNPs) requires further investigation.
Purpose of the Study:
- To determine if paraganglioma syndromes are associated with malignant head and neck paragangliomas.
- To investigate the role of SDHB, SDHC, and SDHD gene mutations in HNP malignancy.
Main Methods:
- Genetic screening of 195 HNP patients for SDHB, SDHC, and SDHD gene mutations.
- Analysis of mutation carriers for the presence of distant metastases.
Main Results:
- Mutations were detected in 5 SDHC, 13 SDHB, and 45 SDHD genes.
- Seven SDHB mutation carriers presented with distant metastases.
- No metastases were observed in SDHC or SDHD mutation carriers; one sporadic HNP case showed local metastasis.
Conclusions:
- SDHB gene mutations are significantly associated with a high rate of malignant HNPs.
- Patients with SDHB mutations require comprehensive imaging (e.g., scintigraphy or DOPA-PET) to rule out metastases.
