RT Journal Article
SR Electronic
T1 Active Succinate Dehydrogenase (SDH) and Lack of <em>SDHD</em> Mutations in Sporadic Paragangliomas
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 2809
OP 2814
VO 25
IS 4
A1 SIMONE BRAUN
A1 KATHRIN RIEMANN
A1 SUSAN KUPKA
A1 PETER LEISTENSCHNEIDER
A1 KARL SOTLAR
A1 HEIDE SCHMID
A1 NIKOLAUS BLIN
YR 2005
UL http://ar.iiarjournals.org/content/25/4/2809.abstract
AB Background: Paragangliomas are benign, slow-growing tumours of the head and neck region. The candidate gene for familial and some sporadic paragangliomas, SDHD (succinate dehydrogenase, subunit D), has been mapped to the PGL1 locus in 11q23.3. Materials and Methods: Normal and tumour DNA of 17 patients with sporadic paragangliomas were analysed by sequencing (SDHD, SDHB and SDHC genes), fluorescence in situ hybridisation (FISH). In addition, loss of heterozygosity (LOH) and succinate dehydrogenase (SDH) enzyme activity assays were performed. Results and Conclusion: Only two patients from our collective showed SDH gene mutations, one in SDHD and one in SDHB, respectively. Moreover, SDH activity detected in 5/8 patients confirmed the fact that SDH inactivation is not a major event in sporadic paragangliomas. LOH and FISH analysis demonstrated a frequent loss of regions within chromosome 11, indicating that additional genes in 11q may play a role in tumour genesis of sporadic paragangliomas. Copyright© 2005 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved