[Associated gastroenteropancreatic neuroendocrine tumours to familiar syndromes].
Aproximately 5-10% of neuroendocrine tumours (NETs) of the gastroenteropancreatic system (GEP) have an hereditary background. The known hereditary syndromes include: multiple endocrine neoplasia type 1 (MEN 1), von Hippel Lindau disease (VHL), neurofibromatosis type 1 (NF 1) and tuberous sclerosis complex (TSC). This review discusses for each of these syndromes the: genes involved and specifics types of mutations, disease prevalence, affected neuroendocrine tissues and related clinical syndromes, and special morphological features of NETs on each of these syndromes.
Lecumberri Pascual
Edurne
E
Servicio de Endocrinología y Nutrición, Fundación Jiménez Díaz Capio, Madrid, España. edurnelecumberri@hotmail.com
D006801:Humans; D007414:Intestinal Neoplasms / Q000235:genetics; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D018358:Neuroendocrine Tumors / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000235:genetics; D013274:Stomach Neoplasms / Q000235:genetics