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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F13%3A10209747%21RIV14-MSM-11130___
rdf:type
skos:Concept n19:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1097/MED.0b013e32835fcc45
dcterms:description
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 cluster 1 and 2 provides us with additional knowledge related to the pathogenesis of these tumors, including the introduction of new treatment options for patients with metastatic PHEOs/PGLs. New discoveries related to the role of the HIF-1/HIF-2 alpha genes in the pathogenesis of almost all inherited PHEOs/PGLs may call for a new regrouping of these tumors and discoveries of new treatment targets. 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 cluster 1 and 2 provides us with additional knowledge related to the pathogenesis of these tumors, including the introduction of new treatment options for patients with metastatic PHEOs/PGLs. New discoveries related to the role of the HIF-1/HIF-2 alpha genes in the pathogenesis of almost all inherited PHEOs/PGLs may call for a new regrouping of these tumors and discoveries of new treatment targets.
dcterms:title
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
skos:prefLabel
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options
skos:notation
RIV/00216208:11130/13:10209747!RIV14-MSM-11130___
n19:predkladatel
n20:orjk%3A11130
n4:aktivita
n15:I
n4:aktivity
I
n4:cisloPeriodika
3
n4:dodaniDat
n9:2014
n4:domaciTvurceVysledku
n7:8695504 n7:2084341
n4:druhVysledku
n11:J
n4:duvernostUdaju
n17:S
n4:entitaPredkladatele
n18:predkladatel
n4:idSjednocenehoVysledku
76410
n4:idVysledku
RIV/00216208:11130/13:10209747
n4:jazykVysledku
n12:eng
n4:klicovaSlova
succinate dehydrogenase; pheochromocytoma; paraganglioma; mutation; gene
n4:klicoveSlovo
n5:gene n5:succinate%20dehydrogenase n5:mutation n5:paraganglioma n5:pheochromocytoma
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[D5001EC7D245]
n4:nazevZdroje
Current Opinion in Endocrinology, Diabetes and Obesity
n4:obor
n6:EB
n4:pocetDomacichTvurcuVysledku
2
n4:pocetTvurcuVysledku
3
n4:rokUplatneniVysledku
n9:2013
n4:svazekPeriodika
20
n4:tvurceVysledku
Musil, Zdeněk Pacak, Karel Vícha, Aleš
n4:wos
000318024200005
s:issn
1752-296X
s:numberOfPages
6
n16:doi
10.1097/MED.0b013e32835fcc45
n13:organizacniJednotka
11130