title: Molecular markers of paragangliomas/pheochromocytomas.
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.
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Svetlana O
authors.initials: SO
authors.lastname: Zhikrivetskaya
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Anastasiya V
authors.initials: AV
authors.lastname: Snezhkina
authors.affiliation: M.M. Shemyakin - Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Zaretsky
authors.affiliation: National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.
authors.forename: Boris Y
authors.initials: BY
authors.lastname: Alekseev
authors.affiliation: A.V. Vishnevsky Institute of Surgery, Moscow, Russia.
authors.forename: Anatoly V
authors.initials: AV
authors.lastname: Pokrovsky
authors.affiliation: A.V. Vishnevsky Institute of Surgery, Moscow, Russia.
authors.forename: Alexander L
authors.initials: AL
authors.lastname: Golovyuk
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Nataliya V
authors.initials: NV
authors.lastname: Melnikova
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.|National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.
authors.forename: Oleg A
authors.initials: OA
authors.lastname: Stepanov
authors.affiliation: A.V. Vishnevsky Institute of Surgery, Moscow, Russia.
authors.forename: Dmitry V
authors.initials: DV
authors.lastname: Kalinin
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Alexey A
authors.initials: AA
authors.lastname: Moskalev
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
authors.forename: George S
authors.initials: GS
authors.lastname: Krasnov
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Alexey A
authors.initials: AA
authors.lastname: Dmitriev
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.|National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.
authors.forename: Anna V
authors.initials: AV
authors.lastname: Kudryavtseva
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D000818:Animals; D014408:Biomarkers, Tumor; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000378:metabolism; D015972:Gene Expression Regulation, Neoplastic; D014644:Genetic Variation; D006801:Humans; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D015398:Signal Transduction
chemical_list: D014408:Biomarkers, Tumor
keywords: germline and somatic mutations; molecular markers; paragangliomas; pheochromocytomas; signaling pathways