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Molecular markers of paragangliomas/pheochromocytomas
Svetlana O Zhikrivetskaya1, Anastasiya V Snezhkina1, Andrew R Zaretsky2
1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
Abstract:
Paragangliomas/pheochromocytomas comprise rare tumors that arise from the extra-adrenal paraganglia, with an incidence of about 2 to 8 per million people each year. Approximately 40% of cases are due to genetic mutations in at least one out of more than 30 causative genes. About 25-30% of pheochromocytomas/paragangliomas develop under the conditions of a hereditary tumor syndrome a third of which are caused by mutations in the VHL gene. Together, the gene mutations in this disorder have implicated multiple processes including signaling pathways, translation initiation, hypoxia regulation, protein synthesis, differentiation, survival, proliferation, and cell growth. The present review contemplates the mutations associated with the development of pheochromocytomas/paragangliomas and their potential to serve as specific markers of these tumors and their progression. These data will improve our understanding of the pathogenesis of these tumors and likely reveal certain features that may be useful for early diagnostics, malignancy prognostics, and the determination of new targets for disease therapeutics.
Insights
Genetic mutations drive rare paragangliomas and pheochromocytomas, often linked to hereditary syndromes like VHL. Understanding these mutations aids in early diagnosis and targeted therapies for these neuroendocrine tumors.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Paragangliomas and pheochromocytomas are rare neuroendocrine tumors arising from extra-adrenal paraganglia.
- Approximately 40% of cases result from genetic mutations in over 30 causative genes.
- Hereditary tumor syndromes account for 25-30% of cases, with VHL gene mutations being significant.
Purpose of the Study:
- To review gene mutations associated with pheochromocytoma and paraganglioma development.
- To explore the potential of these mutations as specific markers for tumor diagnosis and progression.
- To enhance understanding of tumor pathogenesis for improved diagnostics and therapeutics.
Main Methods:
- Review of scientific literature on genetic mutations in paragangliomas and pheochromocytomas.
- Analysis of the role of implicated genes in cellular processes.
- Evaluation of mutation data for diagnostic and prognostic potential.
Main Results:
- Over 30 causative genes implicated in paraganglioma/pheochromocytoma development.
- VHL gene mutations are a notable cause in hereditary tumor syndromes.
- Mutations affect critical cellular pathways including hypoxia regulation, proliferation, and differentiation.
Conclusions:
- Gene mutations are central to the pathogenesis of paragangliomas and pheochromocytomas.
- Identifying specific mutations can serve as valuable biomarkers for early diagnosis and malignancy prognosis.
- Further research into these mutations may reveal novel therapeutic targets.
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