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Molecular markers of paragangliomas/pheochromocytomas
#MMPMID28187001
Zhikrivetskaya SO
; Snezhkina AV
; Zaretsky AR
; Alekseev BY
; Pokrovsky AV
; Golovyuk AL
; Melnikova NV
; Stepanov OA
; Kalinin DV
; Moskalev AA
; Krasnov GS
; Dmitriev AA
; Kudryavtseva AV
Oncotarget
2017[Apr]; 8
(15
): 25756-25782
PMID28187001
show ga
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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