[Genetics of neuroendocrine tumours, hereditary tumour syndromes].

[von hippel-lindau disease]

Neuroendocrine tumours occur in some hereditary tumour syndromes , and the molecular pathophysiological mechanisms involved in these are also important in their sporadic counterparts which representing the majority of neuroendocrine tumours . These syndromes include multiple endocrine neoplasia type 1 , von Hippel-Lindau syndrome , neurofibromatosis type 1 and tuberous sclerosis . All these follow an autosomal dominant inheritance . The primarily affected molecular pathways are Ras-MAPK signalling , hypoxia induced factor 1 α , and mTOR signalling that are also involved in sporadic tumours and may even represent potential molecular targets of therapy . In this review , the major characteristics of hereditary tumour syndromes , their molecular genetics and the pathophysiological mechanisms involved in sporadic tumours are discussed .