Genetics and Epigenetics of Gastroenteropancreatic Neuroendocrine Neoplasms.

Genetics and Epigenetics of Gastroenteropancreatic Neuroendocrine Neoplasms. Endocr Rev. 2019 Jan 17;: Authors: Mafficini A, Scarpa A Abstract Gastroenteropancreatic Neuroendocrine Neoplasms (GEP-NENs) are heterogeneous regarding site of origin, biological behavior and malignant potential. There has been a rapid increase in data publication over the last 10 years, mainly driven by high-throughput studies on pancreatic and small intestinal NETs. This review summarizes the present knowledge on genetic and epigenetic alterations. We integrated the available information from each compartment to give a pathway-based overview. This provided a summary of the critical alterations sustaining neoplastic cells. It also highlighted similarities and differences across anatomical locations and points that need further investigation. GEP-NENs include well-differentiated neuroendocrine tumors (NETs) and poorly differentiated neuroendocrine carcinomas (NEC). NENs are graded as G1, G2 or G3 based on mitotic count and/or Ki-67 labelling index, NECs are G3 by definition. The distinction between NETs and NECs is also linked to their genetic background, as TP53 and RB1 inactivation in NECs set them apart from NETs. A large number of genetic and epigenetic alterations have been reported. Recurrent changes have been traced back to a reduced number of core pathways including DNA damage repair, cell cycle regulation, PI3K/mTOR signaling. In pancreatic tumors,...
Source: Endocrine Reviews - Category: Endocrinology Tags: Endocr Rev Source Type: research