Malignant head and neck paragangliomas in SDHB mutation carriers.

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).

Methods: 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. Conclusions: In SDHB patients, a three-body region imaging and scintigraphy or DOPA-PET must be performed to exclude metastases.