In 1984 an 18-year-old girl was operated because of primary hyperpara-thyroidism (PHPT). Recurrence was seen 13 years later and another neck exploration was performed. Histological examination was consistent with both adenoma and hyperplasia.
She had a history of urticaria pigmentosa since the age of one year. In 199194 she complained of syncope, weight loss, diarrhoea, abdominal pain and alcohol intolerance. Typical skin lesions were found. Total 24-h urinary methylimidazolacetic acid was markedly elevated (16.523.5 mmol, reference range 0.42.4) in several samples. Biopsy of the duodenal and gastric mucosa demonstrated increased amount of mast cells and a bone biopsy was consistent with systemic mastocytosis. The diagnosis of SM was evident from the clinical picture and the bio-chemical findings. Treatment with interferon-alpha was instituted with good clinical and biochemical response.
In 2003 the patient was investigated because of a family history of PHPT (mother+two siblings). Very high levels of plasma pancreaspolypeptide were found (270390 pmol/l, reference range<40). Plasma chromo-granin A concentration was normal, so were all other endocrine para-meters. An abdominal CT revealed three cystic tumours in the pancreatic tail. MRI confirmed the tumours with irregular capsules, loading contrast media. A subtotal resection of the pancreas was performed. Histological examination demonstrated a neuroendocrine tumour, staining for chromogranin and synaptophysin. A pituitary MRI demonstrated a microadenoma, without hormonal secretion. Mutation analysis revealed a mutation in the MEN1 gene (deletion in exon 10).
Discussion: The findings of MEN1 and systemic mastocytosis in the same patient are very rare (if ever described). It may be a coincidence, but a mutation in the KIT- or platelet-derived-growth factor-(PDGF)-gene is another possibility. Treatment with a tyrosine kinase inhibitor could be a therapeutic option.
01 - 05 Apr 2006
European Society of Endocrinology