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Statements

Subject Item
n2:RIV%2F00098892%3A_____%2F13%3A%230000586%21RIV14-MZ0-00098892
rdf:type
skos:Concept n14:Vysledek
dcterms:description
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30% or more of them are thought to be of inherited origin due to germ-line mutations in at least 10 well-characterized genes. There are data linking specific genotypes of these tumors to specific locations, typical biochemical phenotypes or future clinical behaviors. Conversely, clinical features, catecholamine production and immunohistochemistry evaluation can help with the proper order of genetic testing for PHEO and PGL. The identification of a germ-line mutation can lead to an early diagnosis, appropriate treatment, regular surveillance and better prognosis not only for the patient but also for their family members. Moreover, the latest discoveries in molecular pathogenesis of these tumors will provide an important basis for future personalized therpy. Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30% or more of them are thought to be of inherited origin due to germ-line mutations in at least 10 well-characterized genes. There are data linking specific genotypes of these tumors to specific locations, typical biochemical phenotypes or future clinical behaviors. Conversely, clinical features, catecholamine production and immunohistochemistry evaluation can help with the proper order of genetic testing for PHEO and PGL. The identification of a germ-line mutation can lead to an early diagnosis, appropriate treatment, regular surveillance and better prognosis not only for the patient but also for their family members. Moreover, the latest discoveries in molecular pathogenesis of these tumors will provide an important basis for future personalized therpy.
dcterms:title
An update on the genetics of pheochromocytoma An update on the genetics of pheochromocytoma
skos:prefLabel
An update on the genetics of pheochromocytoma An update on the genetics of pheochromocytoma
skos:notation
RIV/00098892:_____/13:#0000586!RIV14-MZ0-00098892
n14:predkladatel
n15:ico%3A00098892
n3:aktivita
n16:I
n3:aktivity
I
n3:cisloPeriodika
3
n3:dodaniDat
n4:2014
n3:domaciTvurceVysledku
n6:9488006
n3:druhVysledku
n12:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
60416
n3:idVysledku
RIV/00098892:_____/13:#0000586
n3:jazykVysledku
n11:eng
n3:klicovaSlova
pheochromocytoma, paraganglioma, genes, catecholamines, metanephrines
n3:klicoveSlovo
n8:pheochromocytoma n8:metanephrines n8:paraganglioma n8:genes n8:catecholamines
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[DBC806676B77]
n3:nazevZdroje
Journal of Human Hypertension
n3:obor
n10:FB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
5
n3:rokUplatneniVysledku
n4:2013
n3:svazekPeriodika
27
n3:tvurceVysledku
Karásek, David
s:issn
0950-9240
s:numberOfPages
7