Paraganglioma: The role of genetic counselling and radiological screening

Abstract

Paragangliomas are rare tumours of the autonomic nervous system that occur in both sporadic and hereditary forms. They are usually benign tumours with low mortality, but can cause significant morbidity related to mass effect. Genetic predisposition to develop paraganglioma can occur within known tumour syndromes and familial tumours tend to present at a younger age and at multiple sites compared to sporadic tumours. Tumours should be diagnosed and excised as early as possible, as studies have shown morbidity to be directly related to tumour size. We present a case of a 14-year-old boy with multiple paraganglioma and a strong family history of paraganglioma. He suffered significant morbidity at resection of an extra-adrenal retroperitoneal tumour due to late diagnosis and was later unable to undergo excision of a head and neck paraganglioma due to its size and relation to neurovascular structures in the neck. We review the current literature on suggested genetic counselling (psychological counselling and DNA analysis) and radiological screening guidelines and recommend that genetic counselling should be offered to all patients with a family history of paraganglioma from the age of 5 years. Those positive for paternal paraganglioma locus gene should then undergo regular radiological screening with MRI.