Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a genetic disorder involving mainly parathyroid tumours, pancreatic neuroendocrine neoplasms (pNENs) and pituitary tumours. In the present study we have registered demographic, clinical, imaging, pathological characteristics, therapeutic options, response to treatment and overall outcome of patients with MEN1.

Methods/design: 35 patients with MEN1 registered in our data base have been studied (14 females, mean age on diagnosis 39 years; range: 15–64), followed during the period 2004–2014. The primary sites, the presence of functional syndrome, and metastatic foci have been registered. TNM system has been used for staging and proliferation index Ki-67 for grading. The therapeutic management and the outcome have been also registered.

Results: 24 (68.6%) patients were the index cases. 19 (54.3%) had a positive gene mutation while 5 (14.3%) did not have the mutated gene. 22 (62.9%) patients had a pituitary adenoma and 31 (88.6%) had hyperparathyroidism. All patients but one suffered from pNENs. 11 (32.4%) patients had a functional syndrome. Metastatic liver deposits were found in 6 (17.6%) patients. In the first diagnosis, 21 (61.9%) neoplasms were found in stage 1, 3 (8.5%) in stage 2, 4 (11.9%) in stage 3 and 6 (17.7%) in stage 4. 14 (41.2%) patients had surgical removal of the neoplasms. The other systemic or local therapies that the patients received as monotherapy or in combination as first line treatment are as following: somatostatin analogues (n=5), chemotherapy (n=1), neoplasm-targeted molecular therapy (n=1), radionucleotides (n=2), chemoembolization (n=1). In the last follow-up of the present analysis 3 (8.6%) patients died of their disease out of the 24 under current follow-up: two with grade 1 pNEN and one grade 2 pNEN.

Conclusion: The present registry implies that the majority of the patients with MEN1 have late progression and long survival despite the presence of disseminated disease, confirming the necessity of specific therapeutic and diagnostic options following the guidelines as well as their management from referral centers under multidisciplinary teams.