A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F19%3AN0000191" target="_blank" >RIV/00064173:_____/19:N0000191 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10396221 RIV/00216208:11120/19:43918458 RIV/00064203:_____/19:10396221 RIV/00064165:_____/19:10396221
Result on the web
<a href="https://doi.org/10.4149/neo_2018_181208N933" target="_blank" >https://doi.org/10.4149/neo_2018_181208N933</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4149/neo_2018_181208N933" target="_blank" >10.4149/neo_2018_181208N933</a>
Alternative languages
Result language
angličtina
Original language name
A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas
Original language description
Head and neck paragangliomas Paragangliomas and pheochromocytomas are rare, mostly benign neuroendocrine tumors, which are embryologically derived from neural crest cells of the autonomic nervous system. Paragangliomas are essentially the extra-adrenal counterparts of pheochromocytomas. As such this family of tumors can be subdivided into head and neck paragangliomas, pheochromocytomas and thoracic and abdominal extra-adrenal paragangliomas. Ten out of fifteen genes that contribute to the development of paragangliomas are more susceptible to the development of head and neck paragangliomas when mutated. Gene expression profiling revealed that pheochromocytomas and paragangliomas can be classified into two main clusters (C1 and C2) based on transcriptomes. These groups were defined according to their mutational status and as such strongly associated with specific tumorigenic pathways. The influence of the main genetic drivers on the somatic molecular phenotype was shown by DNA methylation and miRNA profiling. Certain subunits of succinate dehydrogenase (SDHx), von Hippel-Lindau (VHL) and transmembrane protein 127 (TMEM127) still have the highest impact on development of head and neck paragangliomas. The link between RAS proteins and the formation of pheochromocytoma and paragangliomas is clear due to the effect of receptor tyrosine-protein kinase (RET) and neurofibromatosis type 1 (NF1) in RAS signaling and recent discovery of the role of HRAS. The functions of MYC-associated factor X (MAX) and prolyl hydroxylase 2 (PHD2) mutations in the contribution to the pathogenesis of paragangliomas still remain unclear. Ongoing studies give us insight into the incidence of germline and somatic mutations, thus offering guidelines to early detection. Furthermore, these also show the risk of mistakenly assuming sporadic cases in the absence of definitive family history in head and neck paragangliomas.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30206 - Otorhinolaryngology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neoplasma
ISSN
0028-2685
e-ISSN
1338-4317
Volume of the periodical
66
Issue of the periodical within the volume
5
Country of publishing house
SK - SLOVAKIA
Number of pages
10
Pages from-to
671-680
UT code for WoS article
000491238600001
EID of the result in the Scopus database
2-s2.0-85069894915