Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients
Introduction: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, and with variable biological behavior. 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.
Aim(s): To evaluate clinical and prognostic impact of a pre-clinical genetic screening in patients with hereditary NET syndromes affected with MEN1, MEN2 and FPGL.
Materials and methods: Thirty-six patients with hereditary NET syndrome were included in this study and were divided into 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.
Conference: 7th Annual ENETSConcerence (2010)
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