Neuroendocrine Neoplasms (NENs) in Complex Genetic Disorders

Neuroendocrine neoplasms (NENs) represent a group of neoplasms arising from the neuroendocrine cells of the diffuse endocrine system. The majority of gastrointestinal, pancreatic, lung and thymic carcinoids are sporadic. However, some of the NENs may occur as part of multisystem autosomal dominant inherited genetic disorders, such as multiple endocrine neoplasia type 1 (MEN1) syndrome, von Hippel–Lindau (VHL) disease, neurofibromatosis type 1 (NF-1), tuberous sclerosis complex (TSC), Mahvash syndrome and Pacak–Zhuang syndrome. Over the last three decades, the genetic basis of tumourigenesis in the context of these familial syndromes has been unravelled, thus providing clinicians with useful screening tools for affected families.