Endocrine Abstracts

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of these tumors are due to e germ-line mutation in one of the 13 main susceptibility genes which include: the tumor-suppressor gene VHL; the proto-oncogene RET; the tumor-suppressor gene Nf1; the genes encoding the four subunits of the succinate dehydrogenase (SDH); the SDHAF2/SDH5 gene that is responsible for the flavination of the SDHA subunit;...

Pheochromocytoma (PHEO)/paraganglioma (PGL) are neural crest-derived tumors, and about 25% of the apparently sporadic cases are due to a germ line mutation in one of the susceptibility genes. The group of these genes includes the genes encoding three of the four subunits of the SDH, and the recently discovered gene, SDHAF2/SDH5, responsible for the flavination of the SDHA subunit.Although several hypotheses have been proposed, the molecular events by whi...