Hereditary syndromes associated with neuroendocrine tumors

Abstract

Abstract The spectrum of neuroendocrine neoplasms comprises a heterogeneous group of tumors arising from neuroendocrine cells of the endocrine glands, of the gastrointestinal and bronchopulmonary systems. These tumors are one of the most common heritable groups of neoplasms that are associated with various genetic conditions. Approximately 20% of endocrine neoplasms are due to inherited syndromes, which include multiple endocrine neoplasia syndromes, von Hippel-Lindau disease, the familial paraganglioma syndromes, neurofibromatosis type 1, tuberous sclerosis complex, and novel genetic disorders emerging along with recently described phenotypes. The main challenge in this field is achieving an accurate diagnosis of genetic susceptibility to enable early disease recognition, and intervention improving outcomes in index patients and offering appropriate counseling for family members.