Molecular genetics of gastroenteropancreatic neuroendocrine tumors.
OBJECTIVE
Gastroenteropancreatic neuroendocrine tumors (GEP NETs) are relatively rare neoplasias arising from the embryonic neural crest, neuroectoderm and endoderm. GEP NETs occur either sporadically or as part of endocrine tumor susceptibility syndromes such as multiple endocrine neoplasia type 1 (MEN1), von Hippel Lindau (VHL) syndrome, neurofibromatosis (NF-1), and possibly tuberous sclerosis (TSC). The overall incidence of GEP NETs shows a significant increase over the past three decades. Improved understanding of the molecular genetics associated with these lesions will likely enhance the diagnosis and treatment of patients with GEP NET.


RESULTS
The molecular and clinical genetics of familial GEP NETs have been further elucidated by the characterization of the tumor suppressor genes, MEN1, VHL, NF-1, TSC1, and TSC2. The vastly improved technology in the field of cancer genetics with higher resolution of the study of genetic alterations, and the ability of unbiased mutational analyses of entire tumor genomes is likely to further the understanding of the genetic mechanisms of sporadic GEP NET as well.


CONCLUSIONS
Recent advances in the molecular genetics of sporadic and familial GEP NET are reviewed.
Starker
Lee F
LF
Department of Surgery, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Carling
Tobias
T
D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D008967:Molecular Biology; D018358:Neuroendocrine Tumors / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics*