Endocrine Abstracts

Background: Up to a third of subjects who develop a phaeochromocytoma or a paraganglioma will do so as the result of mutations in one of several familial genes. Identifying a causative mutation may have significant implications for family screening and future disease surveillance.

Objective: To review the frequency and type of genetic testing undertaken in subjects presenting to our unit over a 20-year period who have developed a phaeochromocytoma and/or paraganglioma.

Results: A retrospective examination of pathology and genetic databases from our unit identified 160 subjects who developed a phaeochromocytoma and/or paraganglioma between 1989 and 2009 (in whom data was available). Of the 160 subjects, 61% of subjects developed a phaeochromocytoma, 42% developed a paraganglioma. Seventy-eight percent of subjects where followed-up by an endocrinologist while 22% where follow-up by other specialties. Eighty-four percent of subjects have been under long term follow-up while the remaining 16% were not followed-up.

Only 35% (56/160) of subjects have undergone genetic testing but 70% of subjects have been appropriately considered for genetic analysis if testing is not deemed mandatory for subjects over the age of 50 years. Of those subjects who had genetic analysis, approximately two-thirds of subjects were tested for both VHL and SDH mutations while 10% were tested for RET mutations. Approximately a fifth of the whole cohort was found to have mutations in the SDH genes (11%), the VHL gene (6%) and RET (3%). Thirty percent of subjects have not had appropriate genetic assessment.

Conclusions: A substantial minority of subjects have not had appropriate genetic assessment. Some were seen prior to the advent of routine genetic testing. Old databases need to be re-examined and genetic testing reconsidered. Future services for these subjects must be integrated between relevant sub-specialties so that genetic analysis may be appropriately considered.