ECE2015 Eposter Presentations Endocrine tumours (69 abstracts)
Audit of patients with multiple endocrine neoplasia type 1 (MEN1): screening of pancreatic neuroendocrine tumours (pNETs), parathyroid tumours and pituitary adenomas
Ma Pyeh Kyithar 1 , Lisa Cullen 2 , Chun Lee 2 , Niall Swan 2 , Justin Geoghegan 2 , Stephen Skehan 2 , Rachel Crowley 1, , Donal O’Shea 1, & Dermot O’Toole 2
1Endocrinology Department, St Vincent’s University Hospital, Dublin, Ireland; 2Neuroendocrine Tumour Service, St. Vincent’s University Hospital, Dublin, Ireland.
Introduction: Patients with MEN1 have increased morbidity and mortality compared to those patients with sporadic NETs. No genotype-phenotype correlation is described and age-related clinical penetrance surpasses 50 and 90% by 20 and 40 years, respectively. The aim of the audit was to compare the screening programme for MEN1 patients with MEN1 clinical guidelines.
Methods: Case notes of MEN1 patients attending a tertiary NET-multidisciplinary team (MDT) in Ireland were reviewed. All patients attending the NET-MDT have gastrointestinal hormone, parathyroid, pituitary profiles, endoscopic and imaging studies according to guidelines (NIH 2012, Brandi et al. 2001; 86: 5658–71).
Results: Of 13 patients with MEN1 (11 kindreds), 85% (n=11) had confirmed MEN1 mutations and two had clinical or familial MEN1. 69% were referred to NET-MDT for screening due to known MEN1 mutations, 15% for family screening, 8% for management of pNETs and 8% for screening due to primary hyperparathyroidism and acromegaly. Prior to NET-MDT assessment, 46% did not have endoscopic/radiology studies to screen for pNETs and none of the patients had CT/MRI thorax to screen for thymic/bronchial NETs. Mean age referred to NET-MDT was 41.5±12.2 years. Mean age at endoscopic/radiological screening for NETs (prior to/at NET-MDT) was 37.1±14.3 years. Mean age at diagnosis of NETs was 34.9±14.3 years. On screening of 13 patients at NET-MDT, the following new diagnoses were made: eight pNETs, seven duodenal/gastric NETs, two primary hyperparathyroidism, three pituitary adenomas and four adrenal adenomas. Family screening has been performed in 8/11 families: a further seven family members were identified with MEN1 mutations and will attend NET-MDT for screening. Genetic screening of other families is proceeding.
Conclusion: Endoscopic/radiological screening of NETs occurred at later age than recommended by current guidelines. Surveillance methods were also largely at variance with guidelines. Referral to a dedicated MDT has identified a significant number of previously unrecognised neuroendocrine pathologies.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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