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Published on: August 25, 2023
Molecular genetics of gastroenteropancreatic neuroendocrine tumors
Lee F Starker1, Tobias Carling
1Department of Surgery, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Purpose Of Review:
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.
Recent Findings:
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.
Summary:
Recent advances in the molecular genetics of sporadic and familial GEP NET are reviewed.
Insights
Gastroenteropancreatic neuroendocrine tumors (GEP NETs) are increasingly diagnosed. Advances in molecular genetics are improving the understanding and potential treatment of these rare tumors, both sporadic and familial forms.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Gastroenteropancreatic neuroendocrine tumors (GEP NETs) are rare neoplasms with increasing incidence.
- GEP NETs can be sporadic or associated with genetic syndromes like MEN1, VHL, and NF-1.
Purpose of the Study:
- To review recent advances in the molecular genetics of GEP NETs.
- To highlight the impact of genetic understanding on diagnosis and treatment.
Main Methods:
- Review of current literature on GEP NET molecular and clinical genetics.
- Analysis of advancements in cancer genetics technologies.
Main Results:
- Characterization of tumor suppressor genes (MEN1, VHL, NF-1, TSC1, TSC2) in familial GEP NETs.
- Improved technologies enable higher resolution genetic studies and whole-genome analyses.
Conclusions:
- Recent molecular genetics findings offer enhanced understanding of GEP NETs.
- Further research into genetic mechanisms will likely improve patient care.