TY - JOUR T1 - Active Succinate Dehydrogenase (SDH) and Lack of <em>SDHD</em> Mutations in Sporadic Paragangliomas JF - Anticancer Research JO - Anticancer Res SP - 2809 LP - 2814 VL - 25 IS - 4 AU - SIMONE BRAUN AU - KATHRIN RIEMANN AU - SUSAN KUPKA AU - PETER LEISTENSCHNEIDER AU - KARL SOTLAR AU - HEIDE SCHMID AU - NIKOLAUS BLIN Y1 - 2005/07/01 UR - http://ar.iiarjournals.org/content/25/4/2809.abstract N2 - 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 ER -