Paragangliomas of the head and neck region show complete loss of heterozygosity at 11 q22-q23 in chief cells and the flow-sorted dna aneuploid fraction

Nonchromaffin paragangliomas of the head and neck region, also known as glomus tumors, are usually benign neoplasms consisting of clusters of chief cells surrounded by sustentacular cells arranged in so-called ‘Zellballen’. Most of the patients have a familial background. In a previous study, examin...

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Published inHuman pathology Vol. 29; no. 10; pp. 1045 - 1049
Main Authors Van Schothorst, Evert M., Beekman, Marian, Torremans, Petra, Kuipers-Dijkshoorn, Nel J., Wessels, Hans W., Bardoel, Alfons F.J., Van Der Mey, Andel G.L., Van Der Vijver, Marc J., Van Ommen, Gert-Jan B., Devilee, Peter, Cornelisse, Cees J.
Format Journal Article
LanguageEnglish
Published Elsevier Inc 01.10.1998
Subjects
aneuploid fraction
chief cell
LOH
paraganglioma
PGL1
LOH
HN-paraganglioma
aneuploid fraction
chief cell
PGL1
EDTA
PCR
AIF
paraganglioma
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Summary:Nonchromaffin paragangliomas of the head and neck region, also known as glomus tumors, are usually benign neoplasms consisting of clusters of chief cells surrounded by sustentacular cells arranged in so-called ‘Zellballen’. Most of the patients have a familial background. In a previous study, examining all chromosome arms, we found loss of heterozygosity (LOH) predominantly at the chromosome 11q22-q23 region, where the disease causing gene PGL1 has been located by linkage analysis. However, all tumors showed only partial loss of allele signal intensities, and it was not clear whether this represented allelic imbalance or cellular heterogeneity. In the current study, we have performed LOH analysis for the 11q22-q23 region on DNA-aneuploid tumor cells, enriched by flow sorting, and on purified chief cell fractions obtained by single-cell microdissection. Complete LOH was found for two markers (D11S560 and CD3D) in the flow-sorted aneuploid fractions, whereas no LOH was found in the diploid fractions of three tumors. The microdissected chief cells from two of these tumors also showed complete LOH for both markers, indicating that the chief cells are clonal proliferated tumor cells. These results indicate that the PGL1 gene is likely to be a tumor suppressor gene, which is inactivated according to the two-hit model of Knudson. Furthermore, it shows that chief cells are a major if not the sole neoplastic component of paragangliomas.
ISSN:0046-8177
1532-8392
DOI:10.1016/S0046-8177(98)90411-7