RT Journal Article SR Electronic T1 Active Succinate Dehydrogenase (SDH) and Lack of SDHD 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 BRAUN, SIMONE A1 RIEMANN, KATHRIN A1 KUPKA, SUSAN A1 LEISTENSCHNEIDER, PETER A1 SOTLAR, KARL A1 SCHMID, HEIDE A1 BLIN, NIKOLAUS 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