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.
Boedeker
Carsten Christof
CC
Department of Otorhinolaryngology-Head and Neck Surgery, University of Freiburg, Freiburg, Germany. boedeker@hno.ukl.uni-freiburg.de
Neumann
Hartmut P H
HP
Maier
Wolfgang
W
Bausch
Birke
B
Schipper
Jörg
J
Ridder
Gerd Jürgen
GJ
D000328:Adult; D000368:Aged; D001859:Bone Neoplasms / Q000556:secondary; D002345:Carotid Body Tumor / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005925:Glomus Jugulare Tumor / Q000235:genetics; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008207:Lymphatic Metastasis / Q000175:diagnosis; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics* / Q000556:secondary; D018807:Polymorphism, Single-Stranded Conformational; D011446:Prospective Studies; D013385:Succinate Dehydrogenase / Q000235:genetics*
D007506:Iron-Sulfur Proteins; D008565:Membrane Proteins; C108096:SDHC protein, human; C491545:SDHD protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase