Endocrine Abstracts

Case history: A 36 year-old man was referred to our department for further evaluation of a large adrenal and multiple liver mass lesions. These had been found on an abdominal ultrasound requested for a 3 week history of mild, episodic abdominal pain. He was asymptomatic but described mild night sweats for over 10 years.

Investigations, results and treatment: Hyperparathyroidism was evident, with a serum corrected calcium 3.04 mmol/l (2.15–2.65), PTH 16 pmol/l (1.6–6.9). Ultrasound of the neck showed three enlarged parathyroid glands. Two 24 h urine collections showed raised normetadrenaline levels >70 000 nmol/l (<4400) and raised 3-methoxytyramine levels >3200 nmol/l (<2500). Plasma glucagon was 65 pmol/l (<50). Cross sectional and functional imaging revealed 8.6×6.3 cm inhomogenous adrenal mass with avidity to FDG and MIBG, 2.2×1.7 cm pancreatic tail mass with avidity to FDG alone and 6.3×3.5 cm extracapsular low density mass antero-lateral to the right lobe of the liver with no demonstrated metabolic activity. Genetic testing identified a previously described mutation in intron 4 of the MEN1 gene. He underwent a right adrenalectomy, 3 ½ gland parathyroidectomy and thymectomy and distal pancreatectomy in separate operations at a different institution. Histology revealed a macroscopically excised phaeochromocytoma which demonstrated areas with loss of heterozygosity, fully excised pancreatic 20 mm tumour positive for CGA, synaptophysin and CK19 and biopsy of the perihepatic mass revealed benign cartilaginous tissue. He remains well with no biochemical or radiological evidence of disease recurrence.

Conclusions and discussion points: This case describes an unusual de novo presentation of multiple endocrine neoplasia type 1 (MEN1). Phaeochromocytomas have been reported in MEN1 but are very uncommon. The management dilemma of this case relates to the approach to surgical strategy. Should you monitor the pancreatic tail mass, attempt resection at the time of phaeochromocytoma resection or remove it separately? Does the histology inform our monitoring for the future?