| [ Summary ] |
Research on genetic syndromes associated with gastroenteropancreatic neuroendocrine tumor (GEPNET) has led to the identitication of causative GEPNET genes. These include MEN1, VHL, NF-1, TSC-1 and TSC-2 genes, which are responsible for MEN1, von Hippel-Lindau's Disease, neurofibromatosis, and tubercular sclerosis (both TSC-1 and TSC-2). These genes are a member of either the MEN1 pathway (MEN1) or the mTOR pathway (all other genes). For sporadic GEPNETs, PTEN and PIK3CA, which also encode members of mTOR pathway, are causative genes as well. Two novel causative genes have recently been identified through whole exome sequencing for sporadic P-NET. These are ATRX and DAXX whose products form heterodimer and are involved in chromatin remodeling at the telomeres. In a series of P-NET, the frequency of mutations in genes that are member(s) of the following pathways was 44 % for MEN1 pathway, 44 % for mTOR pathway, and 43 % for DAXX/ATRX pathway, respectively. |