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Updated: May 20, 2026
10:27
Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
Genetic testing by cancer site: endocrine system.
Robert Pilarski1, Rebecca Nagy
1Clinical Cancer Genetics Program, The Ohio State University, Columbus, OH 43240, USA. Robert.pilarski@osumc.edu
Cancer Journal (Sudbury, Mass.)
|August 1, 2012
Summary
Hereditary syndromes, driven by gene mutations, frequently cause endocrine system tumors. Genetic testing and early, aggressive management are crucial for managing these hereditary endocrine tumors.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Hereditary syndromes are linked to mutations in tumor suppressor genes and oncogenes.
- These mutations can lead to tumors in endocrine system organs.
Purpose of the Study:
- To review primary hereditary syndromes causing endocrine tumors.
- To discuss the role of genetic testing and management strategies for these conditions.
Main Methods:
- Review of primary hereditary syndromes including MEN1, MEN2, Cowden syndrome, hereditary pheochromocytoma/paraganglioma, and VHL disease.
- Discussion of clinical genetic testing availability and indications.
- Overview of management principles for hereditary endocrine tumors.
Main Results:
- Specific syndromes (MEN1, MEN2, Cowden, pheochromocytoma/paraganglioma, VHL) and their associated genes (MEN1, RET, PTEN, VHL) are identified.
- Genetic testing is available and recommended for individuals with suggestive clinical features.
- For certain endocrine tumors, genetic testing may be warranted for all affected individuals due to high hereditary prevalence.
Conclusions:
- Hereditary endocrine tumors necessitate specialized management.
- Early and aggressive screening and surgical protocols are vital for minimizing morbidity and mortality.
- Genetic testing plays a key role in diagnosing and managing hereditary endocrine tumor syndromes.
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