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Statements

Subject Item
n2:RIV%2F61989592%3A15110%2F10%3A10224193%21RIV12-MSM-15110___
rdf:type
skos:Concept n16:Vysledek
dcterms:description
According to latest discoveries about 30% of pheochromocytomas and paragangliomas have identified being of inherited origin. Germline mutations used to be found in 100% of syndromic cases and about 90% of patients with positive familial history. In non-syndromic patients with apparently sporadic tumor the frequency of genetic mutations varies between 7.5-27%. Nowadays, genetic testing is recommended for all patients with pheochromocytoma or paraganglioma. The proper order of tested genes could be based on histological evaluation, localization and biochemical phenotype of the present tumor. Identification of gene mutation may also lead to early diagnosis, treatment, regular surveillance and better prognosis in other family members. According to latest discoveries about 30% of pheochromocytomas and paragangliomas have identified being of inherited origin. Germline mutations used to be found in 100% of syndromic cases and about 90% of patients with positive familial history. In non-syndromic patients with apparently sporadic tumor the frequency of genetic mutations varies between 7.5-27%. Nowadays, genetic testing is recommended for all patients with pheochromocytoma or paraganglioma. The proper order of tested genes could be based on histological evaluation, localization and biochemical phenotype of the present tumor. Identification of gene mutation may also lead to early diagnosis, treatment, regular surveillance and better prognosis in other family members.
dcterms:title
Genetic testing for pheochromocytoma Genetic testing for pheochromocytoma
skos:prefLabel
Genetic testing for pheochromocytoma Genetic testing for pheochromocytoma
skos:notation
RIV/61989592:15110/10:10224193!RIV12-MSM-15110___
n4:aktivita
n12:I
n4:aktivity
I
n4:cisloPeriodika
6
n4:dodaniDat
n7:2012
n4:domaciTvurceVysledku
n13:2281910 n13:9488006
n4:druhVysledku
n11:J
n4:duvernostUdaju
n6:S
n4:entitaPredkladatele
n10:predkladatel
n4:idSjednocenehoVysledku
260417
n4:idVysledku
RIV/61989592:15110/10:10224193
n4:jazykVysledku
n15:eng
n4:klicovaSlova
catecholamines; immunohistochemistry; neurofibromatosis type 1; pheochromocytoma; paraganglioma; genetic testing
n4:klicoveSlovo
n5:neurofibromatosis%20type%201 n5:immunohistochemistry n5:pheochromocytoma n5:paraganglioma n5:catecholamines n5:genetic%20testing
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[E919E4DD0F14]
n4:nazevZdroje
Current Hypertension Reviews
n4:obor
n8:FB
n4:pocetDomacichTvurcuVysledku
2
n4:pocetTvurcuVysledku
3
n4:rokUplatneniVysledku
n7:2010
n4:svazekPeriodika
12
n4:tvurceVysledku
Karásek, David Pacak, Karel Fryšák, Zdeněk
s:issn
1573-4021
s:numberOfPages
9
n17:organizacniJednotka
15110