Context: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, with variable biological behaviour. NETs can be sporadic or they can arise in complex endocrine hereditary syndromes such as Multiple Endocrine Neoplasias (MEN), Familial Paragangliomatosis (FPGL), Neurofibromatosis type 1 (NF1), von Hippel-Lindau Disease (VHL), Tuberous Sclerosis (TSC) and Carney Complex (CC). By performing genetic screening, patients with hereditary NETs can be identified before the development of tumors.
Objective: The aim of this study was to evaluate clinical and prognostic impact of a pre-clinical genetic screening in patients with hereditary NET syndromes affected with MEN1, MEN2 and FPGL.
Patients and methods: Thirty-six patients with hereditary NET syndrome were included in this study and were divided in two groups (group A, 16 patients with clinical diagnosis of hereditary NET; group B, 20 patients with genetic diagnosis of hereditary NET who were clinically asymptomatic). All patients were clinically, biochemically and morphologically evaluated. The overall follow-up time was 33.6±4.0 months. The main outcome measures were age at onset, prognosis and survival.
Results: In patients of group B the prevalence of tumors associated to hereditary NET syndrome was lower than in patients of group A (P<0.01). Severity of NET and performance status were better in group B than in group A. Survival was significantly higher in group B than in group A (P<0.05).
Conclusions: The genetic screening in patients with hereditary NET syndromes has relevant clinico-prognostical implications. By identifying patients before the clinical appearance of the tumors improve both survival and quality of life of these patients.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology