Endocrine Abstracts

Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome, affecting multiple endocrine glands whose natural history remains largely unknown. Aim of this study was to assess the epidemiological and clinical profile of MEN1 in a single center. Seventy-three MEN1 patients, belonging to 30 different families, referred at the NET Center of Naples, from 2000 to 2017, were evaluated. Male/female ratio was 0.73, mean age 43 years (range 10–86). Forty-six cases (64%) were diagnosed on family screening. A MEN1 gene mutation was found in 67 cases (92%) and deletion in 1 case. Primary hyperparathyroidism (PHPT) was the most common manifestation (86%), followed by duodeno-pancreatic neuroendocrine tumor (DP-NET) (74%) and pituitary adenoma (PA) (45%). Seven subjects (10%), mean age 22.7 years (range 10-34), have not yet presented any manifestation of MEN1, whereas 26 patients (36%) developed PHPT, DP-NET and PA. DP-NET were mostly non functioning (76%), followed by gastrinoma (22%), insulinoma (2%). Metastases occurred in 7 (13%), four of whom had exon 2 frameshift mutations. Five patients (7%) died, 2 for liver insufficiency of DP-NET, 1 for renal insufficiency, 2 due to DP-NET postoperative complications. Twenty-nine DP-NET patients (54%) received therapy with somatostatin analogs. Two were treated with targeted agents. Median overall survival in DP-NET patients was not reached. Among PA, 42% were macroadenoma, 45% were prolactinoma. Adrenal hyperplasia was found in 29%, mostly hormonally silent (86%), except 1 pheochromocytoma, 1 aldosterone-producing, 1 glucocorticoid producing adenoma. Five patients (7%) developed bronchial/thymic carcinoid. These data contribute to clarify the clinical picture of MEN1. Peculiar finding of our cohort is the high prevalence of DP-NET and adrenal lesions, due to better screening methods.