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Published on: September 8, 2023
Neuroendocrine Tumors: Genomics and Molecular Biomarkers with a Focus on Metastatic Disease
1Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Abstract:
Neuroendocrine tumors (NETs) are considered rare tumors that originate from specialized endocrine cells. Patients often present with metastatic disease at the time of diagnosis, which negatively impacts their quality of life and overall survival. An understanding of the genetic mutations that drive these tumors and the biomarkers used to detect new NET cases is important to identify patients at an earlier disease stage. Elevations in CgA, synaptophysin, and 5-HIAA are most commonly used to identify NETs and assess prognosis; however, new advances in whole genome sequencing and multigenomic blood assays have allowed for a greater understanding of the drivers of NETs and more sensitive and specific tests to diagnose tumors and assess disease response. Treating NET liver metastases is important in managing hormonal or carcinoid symptoms and is imperative to improve patient survival. Treatment for liver-dominant disease is varied; delineating biomarkers that may predict response will allow for better patient stratification.
Insights
Neuroendocrine tumors (NETs) are rare, often diagnosed late. Understanding genetic drivers and biomarkers aids early detection and treatment, improving patient survival and quality of life.
Area of Science:
- Oncology
- Genetics
- Biomarkers
Background:
- Neuroendocrine tumors (NETs) are rare neoplasms originating from specialized endocrine cells.
- Metastatic disease at diagnosis is common in NET patients, significantly impacting prognosis and quality of life.
Purpose of the Study:
- To highlight the importance of understanding genetic mutations driving NETs for earlier diagnosis.
- To discuss the role of biomarkers in identifying NETs and assessing treatment response, particularly for liver metastases.
Main Methods:
- Review of current diagnostic biomarkers (CgA, synaptophysin, 5-HIAA) for NETs.
- Exploration of advancements in whole genome sequencing and multigenomic blood assays for NET detection and characterization.
Main Results:
- Traditional biomarkers show limitations; advanced genomic techniques offer more sensitive and specific diagnostic and prognostic capabilities.
- Effective management of liver metastases is crucial for symptom control and survival in NET patients.
Conclusions:
- Identifying genetic drivers and utilizing novel biomarkers are key to earlier NET detection and improved patient stratification.
- Further research into biomarkers predicting treatment response for liver-dominant NETs is essential for personalized therapy.
