Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent genetic alterations in PNET occur in MEN1 (Multiple Endocrine Neoplasia-1 Gene), DAXX/ATRX (Death-Domain Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal dominant hereditary syndrome. Mutations of DAXX and ATRX are common and related to altered telomeres but not to prognosis.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms of digestive organs
2C10 Malignant neoplasm of pancreas
H00045 Pancreatic neuroendocrine tumor
Tumor markers [br08442.html]
H00045
