Related Experiment Videos
Familial neuroendocrine tumors as a model of hereditary cancer
1Department of Preventive Medicine, Creighton University School of Medicine, Omaha, NE 68131, USA.
Abstract:
Familial neuroendocrine tumors are reviewed. The most dramatic advances have been in the application of molecular genetic techniques to define the affected genes and to develop predictive testing for patients with multiple endocrine neoplasia syndromes. Germline mutations at specific loci of the RET proto-oncogene have been demonstrated in patients with multiple endocrine neoplasia types IIA, IIB, and familial medullary thyroid carcinoma not associated with multiple endocrine neoplasia. This has led to direct DNA testing for these mutations in patients at risk for these syndromes. The approach to predictive testing, diagnosis, and early treatment of these patients is discussed as a model for the approach to hereditary cancers. Linkage testing with DNA markers is still required for patients with multiple endocrine neoplasia type I because the responsible gene has not yet been isolated. Efforts to clarify the etiologies of other familial neuroendocrine tumors not associated with multiple endocrine neoplasia continue. Familial pheochromocytoma, neuroblastoma, and carcinoid also are reviewed. The use of molecular genetic techniques as a powerful tool for the early identification and treatment of susceptible individuals is emphasized.
Insights
Molecular genetic techniques enable predictive testing for familial neuroendocrine tumors, particularly multiple endocrine neoplasia syndromes. Early identification and treatment of susceptible individuals are emphasized for hereditary cancer management.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Familial neuroendocrine tumors (NETs) represent a significant clinical challenge.
- Advances in molecular genetics have been pivotal in understanding hereditary cancer syndromes.
Purpose of the Study:
- To review the application of molecular genetic techniques in diagnosing and managing familial neuroendocrine tumors.
- To highlight the importance of predictive testing for hereditary cancer syndromes.
Main Methods:
- Review of molecular genetic studies on familial neuroendocrine tumors.
- Analysis of germline mutations in genes like RET proto-oncogene.
- Discussion of predictive DNA testing and linkage analysis.
Main Results:
- Germline mutations in the RET proto-oncogene identified in multiple endocrine neoplasia types IIA, IIB, and familial medullary thyroid carcinoma.
- Direct DNA testing is now available for these specific mutations.
- Linkage testing is still necessary for multiple endocrine neoplasia type I due to the unisolated responsible gene.
Conclusions:
- Molecular genetics provides powerful tools for early identification and treatment of individuals susceptible to familial neuroendocrine tumors.
- The approach to multiple endocrine neoplasia serves as a model for hereditary cancer management.
- Ongoing research aims to elucidate the genetic basis of other familial NETs.