SFEBES2009 Poster Presentations Endocrine tumours and neoplasia (32 abstracts)
Asymptomatic children with multiple endocrine neoplasia type 1 (MEN1) mutations harbour pancreatic and pituitary tumours
P Newey 1 , J Jeyabalan 1 , P Christie 1 , B Shine 1 , R Phillips 2 , F Gleeson 2 , S Gould 3 , Z Soonawalla 4 , P Johnson 5 , F Ryan 6 & R Thakker 1
1Academic Endocrine Unit, OCDEM, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK; 2Department of Radiology, The Churchill Hospital, Oxford, UK; 3Pathology Department, Oxford Children’s Hospital, Oxford, UK; 4Department of Surgery, John Radcliffe Hospital, Oxford, UK; 5Department of Paediatric Surgery, Oxford Children’s Hospital, Oxford, UK; 6Paediatric Department of Endocrinology, Oxford Children’s Hospital, Oxford, UK.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by parathyroid, anterior pituitary and pancreatic islet tumours. Primary hyperparathyroidism is the first clinical manifestation in >85% of patients, although in some patients pancreatic and pituitary tumours may precede the occurrence of primary hyperparathyroidism. The earliest occurrence of MEN1-tumours has been reported at the age of 5 years following which the age-related penetrance increases rapidly to 50% by the age of 20 years. Screening of children above the age of 5 years is therefore recommended, although the optimum strategy remains to be defined. We present two children with a family history of MEN1 in whom screening identified the early development of tumours. Patient 1, a 7-year-old asymptomatic girl, was identified to have a Gln349stop mutation. She underwent annual assessment for serum biochemistry and interval MRI of the pituitary and pancreas. Although remaining asymptomatic at age 12 years, with normal plasma gut hormones, a 3.7 cm lesion was identified within the tail of pancreas. A distal pancreatectomy revealed a well-differentiated non-functioning pancreatic tumour. Patient 2 was a 14-year-old asymptomatic girl identified to have a frameshifting deletion resulting in truncation at codon 221. Detailed questioning revealed that she had irregular menses and investigations demonstrated hyperprolactinaemia and hypercalcaemia with a raised circulating parathyroid hormone. MRI revealed a right-sided pituitary adenoma and a 1.5 cm lesion in the neck of the pancreas. Cabergoline treatment restored normoprolactinaemia. Annual MRI of the pancreas indicated an increase in tumour size and at age 16 years a partial pancreatectomy was performed. Histology demonstrated a non-functioning pancreatic endocrine tumour with loss of menin expression. Both remain well and asymptomatic post-operatively. These two cases highlight the importance of screening children with MEN1 mutations as early diagnosis and treatment is likely to reduce both morbidity and mortality.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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