Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10209747" target="_blank" >RIV/00216208:11110/13:10209747 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11130/13:10209747 RIV/00064203:_____/13:10209747 RIV/00064165:_____/13:10209747
Výsledek na webu
<a href="http://dx.doi.org/10.1097/MED.0b013e32835fcc45" target="_blank" >http://dx.doi.org/10.1097/MED.0b013e32835fcc45</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MED.0b013e32835fcc45" target="_blank" >10.1097/MED.0b013e32835fcc45</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
Popis výsledku v původním jazyce
Purpose of review To summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile. Recent findings Recently, TMEM127, MYC-associated factor X, and hypoxia-inducible factor (HIF) 2 alpha have been described in the pathogenesis of PHEOs/PGLs. Thus, now about 30-40% of these tumors are linked to the germline mutations, which also include mutations in the VHL, RET, NF1, SDHx, and SDHAF2 genes. Furthermore, PHEOs/PGLs have been divided into two groups, cluster 1 (SDHx/VHL) and cluster 2 (RET/NF1), based on the transcription profile revealed by genome-wide expression microarray analysis. Summary PHEOs/PGLs are the most inherited tumors among (neuro) endocrine tumors. Future approaches in genetics, including whole-genome sequencing, will allow the discovery of additional PHEO/PGL susceptibility genes. The current division of PHEOs/PGLs into c
Název v anglickém jazyce
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
Popis výsledku anglicky
Purpose of review To summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile. Recent findings Recently, TMEM127, MYC-associated factor X, and hypoxia-inducible factor (HIF) 2 alpha have been described in the pathogenesis of PHEOs/PGLs. Thus, now about 30-40% of these tumors are linked to the germline mutations, which also include mutations in the VHL, RET, NF1, SDHx, and SDHAF2 genes. Furthermore, PHEOs/PGLs have been divided into two groups, cluster 1 (SDHx/VHL) and cluster 2 (RET/NF1), based on the transcription profile revealed by genome-wide expression microarray analysis. Summary PHEOs/PGLs are the most inherited tumors among (neuro) endocrine tumors. Future approaches in genetics, including whole-genome sequencing, will allow the discovery of additional PHEO/PGL susceptibility genes. The current division of PHEOs/PGLs into c
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
EB - Genetika a molekulární biologie
OECD FORD obor
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Návaznosti výsledku
Projekt
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Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2013
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Current Opinion in Endocrinology, Diabetes and Obesity
ISSN
1752-296X
e-ISSN
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Svazek periodika
20
Číslo periodika v rámci svazku
3
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
6
Strana od-do
186-191
Kód UT WoS článku
000318024200005
EID výsledku v databázi Scopus
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