期刊
ONCOTARGET
卷 8, 期 15, 页码 25756-25782出版社
IMPACT JOURNALS LLC
DOI: 10.18632/oncotarget.15201
关键词
paragangliomas; pheochromocytomas; molecular markers; germline and somatic mutations; signaling pathways
资金
- Russian Foundation for Basic Research [16-04-01521a]
- ICGEB project [CRP/RUS15-01]
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.
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