| Pheochromocytoma and paraganglioma are tumors of the autonomous nervous system
mainly occurring in the adrenal medulla, but also in the extraadrenal paraganglias of the abdomen,
thorax, neck and skull basis. The etiology comprises germline mutations of now 6 genes. About 10
years known are the RET gene susceptible for multiple endocrine neoplasia type 2, the VHL gene for
von Hippel-Lindau Disease, and the NF 1 gene for neurofibromatosis Recklinghausen (neuro-
fibromatosis type 1). Since 2000 the genes for succinatedehydrogenase subunits SDHB, SDHC, and
SDHD have been identified for paraganglioma syndromes type 4, type 3, and type 1 respectively.
Investigations of series of pheochromocytoma patients identified germline mutations in one of the
genes SDHB, SDHD, VHL and RET in 24% to 50% of the patients. Multifocal tumors, young age and
positive family history, known features associated with inheritence, have not been present in all
patients. Therefore, analyses of blood DNA for mutations in these genes are recommended. Positive
tests provide the patients and their relatives with essential platforms for clinical care. Experiences
in this field of medicine have shown that optimal management of patients with pheochromocytomaassociated
syndromes is a high challenge. National registries may be instrumental in order to provide
with adequate facilities. |
