Parasympathetic paragangliomas (PGLs) represent neuroendocrine tumors
arising from chief cells in branchiomeric and intravagal paraganglia,
which share several histological features with their sympathetic
counterpart sympathoadrenal paragangliomas. In recent years, genetic
analyses of the familial form of PGL have attracted considerable interest.
However, the majority of paragangliomas occurs sporadically and it remains
to be determined whether the pathogenesis of sporadic paraganglioma
resembles that of the familial form. Furthermore, data on comparative
genetic aberrations are scarce. To provide fundamental cytogenetic data on
sporadic and hereditary PGLs, we performed comparative genomic
hybridization using directly fluorochrome-conjugated DNA extracted from 12
frozen and 4 paraffin-embedded tumors. The comparative genomic
hybridization data were extended by loss of heterozygosity analysis of
chromosome 11q. DNA copy number changes were found in 10 (63%) of 16
tumors. The most frequent chromosomal imbalance involved loss of
chromosome 11. Six of seven familial tumors and two of nine sporadic
tumors showed loss of 11q (86% versus 22%, P = 0.012). Deletions of 11p
and 5p were found in two of nine sporadic tumors. We conclude that overall
DNA copy number changes are infrequent in PGLs compared to sympathetic
paragangliomas and that loss of chromosome 11 may be an important event in
their tumorigenesis, particularly in familial paragangliomas