Sporadic Paraganglioma Succinate Dehydrogenase Subunit Gene D Somatic Mutation Detection

OBJECTIVE To find out the prevalence of SDHD somatic mutations in patients with paraganglioma from china and to find out whether there is any relationship between SDHD somatic mutation and the sporadic paragangliomas. Then we may provide the basis for further study of molecular diagnosis and molecular genetics of paraganglioma.METHODS 15 sporadic PGLs with complete clinical and pathological data were investigated. Seven of them which were insisted of one caratid body paraganglioma and six other paragangliomas were diagnosed at Affiliated Hospital of Qingdao University Medical College. Other nine carotid body paragangliomas were collected from The Ninth Affiliated Hospital of Shanghai Jiao Tong University Medical College. The genome DNA was extracted from paraffin-embedded tumors. Amplified fragments of SDHD exons obtained through PCR were sequenced directly after purification and the sequencing results were compared with the standard sequences published in the NCBI Net.RESULTS We didn’t find any somatic mutations of SDHD in these fifteen sporadic cases, which consisted of nine carotid body paragangliomas, four retroperitoneal paragangliomas, one post-thyreoidea paraganglioma and one from Lumbar spinal canal.CONCLUSION The somatic mutations of SDHD may not play a significant role in the development of sporadic PGL.