NEPT include a complex spectrum of neoplasm with diverse biology and clinical course. Multiple Endocrine Neoplasm type 1 (MEN1) syndrome is an autosomal dominant disease associated with a high frequency of duodenal and pancreatic neuroendocrine tumours. Due to its very low prevalence, the biological and clinical behaviour of hereditary NEPT is poorly characterized. Since they are underrepresented in clinical trials, the therapeutic approach is usually extrapolated from sporadic NEPT guidelines. The aim of this work was to define the clinical and pathological characteristics of hereditary NEPT.
We retrospectively analysed a large cohort (1983-2015) of MEN1-associated NEPT, corresponding to all incident cases in a high-prevalence geographical area. Clinical and pathological characteristics of hereditary and sporadic NEPT were compared. Chi-2 test and T-tests were used for comparison of qualitative and quantitative variables. Survival analysis was performed with Kaplan-Meier curves and log-rank test.
A total of 85 patients were included: 58 (68%) patients with sporadic and 27 (31%) with hereditary NEPT (77%: c.1546delC). In comparison with sporadic cases, hereditary NEPT more frequently presented as non-metastatic tumors (96% vs. 36%, p = 0.001), with multiple lesions (74% vs. 25%, p
Hereditary NEPT associated to MEN1 syndrome exhibit a very good prognosis, with no disease-related deaths observed in a large cohort of patients. Although genetic-driven early diagnose may have contributed to this outcome, the low grade and low proliferation found in our series, suggest a different biological behaviour for hereditary NEPT.
Clinical trial identification
Legal entity responsible for the study
Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
All authors have declared no conflicts of interest.