Don't assume an α‐fetoprotein secreting tumour is of germ cell or hepatic origin

Abstract

Alpha-fetoprotein (AFP) is a valuable marker for the detection and follow-up of germ cell and hepatic neoplasms. Although the literature is replete with reports of AFP-secreting pancreatic tumours, this association is often forgotten [1][2][3][4][5]. This is especially likely when the clinical picture and laboratory data lead in another direction, as they did in the case of a 13-year old boy who came under our care. He presented in status epilepticus, requiring admission to the Paediatric Intensive Care Unit. His clinical examination revealed facial acne, a right eye ptosis, and a mass in the right lumbar and iliac region. He also had hypertension (systolic 140-160 and diastolic 110-120 mmHg) requiring therapy. His hypertension and ptosis improved spontaneously within 4 days of admission. The initial diagnosis was considered to be a primary malignant tumour in the abdomen, probably originating from an adrenal gland, with cerebral metastases. Phenytoin was started. Haematology and coagulation parameters were normal. The urinary cortisol level was significantly elevated (635 nmol/24h, normal value 5-90 nmol/24h) although his hormonal assays (LH, FSH, testosterone, ACTH, cortisol, DHEA-SO 4 , and T 4 ) were normal. He had a slightly elevated LDH of 740 U/l (normal 260-520 U/l) and a very high AFP (160,780 IU/ ml; normal level <16 IU/ml). Other biochemical parameters (renal and liver function, amylase) and tumour markers (NSE, CEA, and b-HCG) were normal. His MRI and CT scans confirmed a retroperitoneal lobulated tumour with cystic and solid areas, 10 Â 11 Â 13 cm, situated just below the liver and extending to the right iliac crest. On MRI the mass was separate from the right kidney and liver but the right adrenal could not be visualised. The mass was displacing the proximal body of the pancreas anteriorly. His cerebral MRI had multiple areas of high signal intensity within the subcortical region suggestive of infarcts, possibly secondary to tumour emboli. A PET scan failed to reveal any areas of glucose hypermetabolism within the brain, so favouring a vascular accident rather than tumour metastasis.The retroperitoneal mass was thallium avid but imaging did not reveal any evidence of dissemination. He underwent an open tumour biopsy. Intra-operatively, the mass was considered to be separate from the liver and kidney, though the organ of origin was not apparent.