Paragangliomas in a 76 year old man found to have SDHB Mutation – Case Report
James Meegan, Venisha Patel, Matthew Allum
Imperial College NHS Trust.
A 76-year-old male was investigated for jaundice, later attributed to biliary stricture. Routine chest radiograph identified a left sided thoracic mass. This mass was large measuring 7x10x10cm, eroding the T7 and T8 vertebrae on CT chest, abdomen and pelvis. Surgical excision was planned and spinal angiography revealed a dense collateral vascular supply.
Pre-operative fluoroscopic-guided embolisation followed by thoracotomy was carried out in March 2011. The mass was debulked and histology revealed a paraganglioma. The patient had no symptoms of catecholamine hypersecretion and was normtensive. Urinary collections for catecholamines were within normal range.
The patient was followed up with surveillance MRI imaging of the spine. 18 months later the patient was noted to have a large right sided neck swelling. It subsequently came to light that this lump had been enlarging over the two previous years, its presence recalled by the patient prior to discovery of the thoracic mass. MRI scan of the neck revealed a 7cm mass splaying the carotid bifurcation and laterally displacing the carotid arteries. Gallium DOTATATE PET-CT showed the mass to be intensely gallium avid, as was the residual tissue corresponding to the previously debulked paraganglioma. Urine collections for hypersecretion were again normal and the patient continued to be symptom free with normal blood pressure. There was no neurological deficit.
Genetic screening was carried out and the patient found to have SDHB mutation.
MRI spine in May 2013 showed the thoracic paraganglioma to have reduced in size, but with progression into the spinal cord. The patient still had no objective neurological deficit but reported intermittent left sided mid-thoracic back pain, treated with Pregabalin.
Complex discussion ensued in the Adrenal MDT, with cardiothoracic, neurosurgical and head and neck surgical input. Because of the advancing threat to the spinal cord, and because repeat thoracic surgery was deemed to be high risk and likely ineffective, radiotherapy was planned. The patient was treated with 20 rounds of wide beam radiotherapy to the paraspinal paraganglioma. Subsequent excision of the right neck tumour has been planned after uneventful carotid balloon occlusion, under alpha-blockade.
The patient’s daughter was diagnosed with a prolactinoma at Charing Cross Hospital aged 57. The family have been referred for genetic counselling and screening.