Molecular pathogenesis in sporadic head and neck paraganglioma.
OBJECTIVE
Similar to familial tumors, sporadic head and neck paragangliomas are associated with chromosomal deletions at either 11q13 or 11q22-23.


BACKGROUND
Familial paragangliomas are inherited in an autosomal dominant pattern with genomic imprinting of the maternal allele. Genetic studies of familial paragangliomas have localized the causative genetic defect to two separate loci: 11q13.1 and 11q22-23. The molecular pathogenesis of sporadic head and neck paragangliomas has not been studied.


METHODS
Blood and tumor samples from patients with sporadic head and neck paragangliomas were screened for deletions on chromosome 11 using DNA microsatellite markers and polymerase chain reaction. Polymerase chain reaction-amplified alleles from tumor specimens were compared with those from the blood of eight patients. A greater than 50% reduction in band intensity (as determined by densitometric analysis) between blood and tumor sample was indicative of a chromosomal deletion.


RESULTS
Three of the eight patients were found to have deletions at chromosome 11q: two at chromosome 11q22-23 and one at 11q13.


CONCLUSIONS
Sporadic head and neck paragangliomas are associated with deletions at chromosome 11q13 and 11q22-23. It is thus likely that sporadic and familial paragangliomas share a similar molecular pathogenesis.
Bikhazi
P H
PH
Department of Otolaryngology--Head and Neck Surgery, University of California San Francisco, 94143-0342, USA.
Messina
L
L
Mhatre
A N
AN
Goldstein
J A
JA
Lalwani
A K
AK
D000368:Aged; D002345:Carotid Body Tumor / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005925:Glomus Jugulare Tumor / Q000235:genetics; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics*; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics; D016133:Polymerase Chain Reaction