Phaeochromocytomas and abdominal paragangliomas are catecholamine-producing tumours that arise from neural crest-derived cells of the adrenal medulla and the extra-adrenal paraganglia, respectively. More than 30% of cases have been reported to carry germline mutations in a growing list of susceptibility genes: PHD2, HIF2A, KIF1Bβ, MAX, MEN1, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127 and VHL, which are involved in diverse but interconnecting pathways. For several of the genes, germline mutations cause hereditary tumour syndromes in which phaeos or paragangliomas can be among the manifestations.

Genetic testing can aid decisions about treatment and screening in phaeo/paraganglioma patients and family members. Traditional Sanger sequencing of all of the associated genes, in a clinical or a research setting, is expensive and time-consuming. However, with the advent of Next Generation Sequencing technologies, genetic testing is now a realistic option for patients with these rare tumours. In this presentation I will outline the genetic causes for phaeochromocytoma and present an approach to the genetic investigation of phaeochromocytoma and paraganglioma.