Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

摘要: Background: Paragangliomas are benign, slow- growing tumours of the head and neck region. The candidate gene for familial some sporadic paragangliomas, SDHD (succinate dehydrogenase, subunit D), has been mapped to PGL1 locus in 11q23.3. Materials Methods: Normal tumour DNA 17 patients with paragangliomas were analysed by sequencing (SDHD, SDHB SDHC genes), fluorescence situ hybridisation (FISH). In addition, loss heterozygosity (LOH) succinate dehydrogenase (SDH) enzyme activity assays performed. Results Conclusion: Only two from our collective showed SDH mutations, one SDHB, respectively. Moreover, detected 5/8 confirmed fact that inactivation is not a major event paragangliomas. LOH FISH analysis demonstrated frequent regions within chromosome 11, indicating additional genes 11q may play role genesis Non-chromaffin (PGL, OMIM 16800) represent rare form tumours, mostly originating neural crest-derived chief cells paraganglia, an incidence 1:100,000 1:1,000,000 (1). They occur between ages 14 65 (2). region, PGLs seem appear predominantly at glomus caroticum, which parasympathetic paraganglion located wall carotid bifurcation. caroticum reacts as chemoreceptor changes blood pH O2 CO2 partial pressures, thereby contributing regulation respiration circulation. Even though mainly benign character, PGLs, especially tympanicum usually removed because their spread can lead symptoms such hearing impairment, tinnitus or facial nerve paralysis (3). A malignant progression uncommon, but emerge lymph nodes, lung liver (4). be sporadic, however, depending on populations, 10 50% cases (5, 6).