In the last decade there have been significant advances in our understanding of the genetic basis for Multiple Endocrine Neoplasia Type 2 and the Hereditary Phaeochromocytoma/Paraganglioma Syndromes. Mutations in the RET proto-oncogene and mutations in the succinate dehydrogenase subunit genes and several other genes are responsible for nearly all cases of MEN 2 and 40% of Phaeo/PGL respectively.
Phenotype genotype correlations will be provided and discussed and utilise large international consortia for data collection. New imaging modalities are also changing the screening paradigms in families with these conditions.
As the molecular basis for these tumours is understood, targeted treatments are being identified and trialled. The results of these trials will be presented. In MTC, most result in a doubling of progression-free survival. Similar studies in phaeochromocytoma are being performed.