Are Patients with Paragangliomas Receiving Genetic Screening for Succinate Dehydrogenase Deficiency? An Evaluation of Local and National Screening Rates Conducted from the Sheffield Neurosurgical Unit

Objective: The relationship between succinate dehydrogenase deficiency (SDH) and paragangliomas has been recognized for approximately 10 years. SDH genetic testing is indicated in all patients with head and neck and/or thoracic-abdominal paraganglioma. We decided to evaluate the screening rates for SDH in skull base paragangliomas at the local and national level.

Design: We conducted a retrospective analysis by searching the local database and a national database over a 7-year period from 01/01/2004 to 07/22/2011.

Patients/Materials and Methods: The local skull base neurosurgery database was compiled using a search for “paragangliomas” and “glomus.” The database of the National Stereotactic Radiosurgery Unit at Sheffield was similarly searched. The local database yielded 18 patients, and 74 patients were found on the national database. The Birmingham genetics center (only UK center for SDH deficiency testing) provided information regarding SDH deficiency testing for the patients.

Results: From the 18 local patients, 5 (3 positive) had been tested. From the 74 national patients, 7 (5 positive) had been tested. A significant difference was shown between these two figures (using Chi test, P < 0.1).

Conclusions: This study has shown that the vast majority of patients with skull base paragangliomas are not receiving genetic testing. Within the Sheffield neurosurgical department, where awareness has been raised regarding the importance of testing, the screening rates have become higher at 28% compared with 9% nationally. By increasing awareness within the neurosurgical community, we hope to increase the numbers of patients being tested on a national level.