Endocrine Abstracts

Pheochromocytoma can present as a sporadic or familial tumor. Classic syndromes include multiple endocrine neoplasia type 2 caused by mutations of the RET gene, Von Hippel-Lindau disease by mutations of the VHL gene and neurofibromatosis by mutations of the NF 1 gene. In 2000 for familial neck paraganglioma the susceptibility gene of succinatedehydrogenasis subunit D, SDHD was identified and subsequently also shown to be mutated in a subset of familial and sporadic pheochromoc...