A case of bilateral pheochromocytoma in MEN2A

P Machenahalli, E Hatfield, K Meeran, F Palazzo, JF Todd, Hammersmith Hospital, Imperial College.

27 year old lady had loin pain and recurrent urinary tract infections. Ultrasound of kidneys revealed left sided adrenal mass.  CT and MRI scans revealed bilateral adrenal masses (left-5-6 cm, right-2-3cm) with no intra-lesional fat and probable intra-lesional haemorrhage and necrosis.

Up on direct enquiry, she complained of intermittent episodes of headaches, nausea, palpitations, chest pain, fevers and shiver, anxiety and panic, rapid pulse, rapid breathing, visual disturbances, light-headedness sweating and flushes, abnormal pain and leg and arm pain, causing tingling, prickling, numbness and burning for 12-18 months. No significant past medical history. Her grandmother died suddenly of primary pulmonary hypertension otherwise no significant family history of note. She had 3 year old son.

Systemic examination was normal, BP 120/70 mmHg. 24 hour BP monitoring revealed average BP 110/66 mmHg, maximum systolic BP 146 mmHg.

24 hour urine metanephrines were 20.2 umol/day (normal 0-3.47), 24 hour urine metadrenaline was 15.07umol/day (0-1.52), 24 hour urinary normetadrenaline 0.15 umol/day, noradrenaline 5.17 umol/day (normal range <1.95 umol/day), Calcitonin 14.4 ng/l (normal range <4.8). MIBG Iodine 123 SPECT CT scan showed increased MIBG uptake in both adrenal gland indicating neuroendocrine lesion.

She was adequately alpha blocked with phenoxybenzamine and underwent bilateral adrenalectomy. Cytology revealed bilateral Pheochromocytoma with PASS score 3. Genetic analysis showed RET proto oncogene mutation in 634 consistent with MEN-2A. Ultrasound scan of the thyroid showed two sub centimetre lesions within the thyroid and 7 x 5 mm lesion, this is in the right lobe and 4 x 3 mm lesion in the left side of the thyroid with microcalcification and increased vascularity. Subsequently, underwent total thyroidectomy and central neck lymph node clearance. Cytology revealed bilateral medullary thyroid carcinoma. Post operatively calcitonin was undetectable.  She has been commenced on hydrocortisone, levothyroxine replacement. Her son has also been found to have MEN2 gene on genetic screening and remains under the care of paediatric team at Great Ormond Street hospital.

Conclusion: Pheochromocytomas are common in MEN 2A (50%), but they usually develop asynchronously.