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Statements

Subject Item
n2:RIV%2F61989592%3A15110%2F10%3A10213438%21RIV11-MSM-15110___
rdf:type
n7:Vysledek skos:Concept
rdfs:seeAlso
doi 10.1007/s11906-010-0151-1
dcterms:description
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis. Germline mutations were found in 100% of syndromic cases and in about 90% of patients with positive familial history. In nonsyndromic patients with apparently sporadic tumors, genetic mutations have been found in up to 27%, and genetic testing is now recommended for all patients with PHEOs and PGLs. Patients with syndromic lesions, a positive family history, or both should be tested for the appertaining gene. Recent discoveries have shown that the order of tested genes in nonsyndromic, nonfamilial cases can be based on histologic evaluation, location, and the biochemical phenotype of PHEOs and PGLs-the %22rule of three.%22 Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis. Germline mutations were found in 100% of syndromic cases and in about 90% of patients with positive familial history. In nonsyndromic patients with apparently sporadic tumors, genetic mutations have been found in up to 27%, and genetic testing is now recommended for all patients with PHEOs and PGLs. Patients with syndromic lesions, a positive family history, or both should be tested for the appertaining gene. Recent discoveries have shown that the order of tested genes in nonsyndromic, nonfamilial cases can be based on histologic evaluation, location, and the biochemical phenotype of PHEOs and PGLs-the %22rule of three.%22
dcterms:title
Genetic testing for pheochromocytoma Genetic testing for pheochromocytoma
skos:prefLabel
Genetic testing for pheochromocytoma Genetic testing for pheochromocytoma
skos:notation
RIV/61989592:15110/10:10213438!RIV11-MSM-15110___
n3:aktivita
n18:V
n3:aktivity
V
n3:dodaniDat
n17:2011
n3:domaciTvurceVysledku
n13:2281910 n13:9488006
n3:druhVysledku
n10:A
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
260418
n3:idVysledku
RIV/61989592:15110/10:10213438
n3:jazykVysledku
n9:eng
n3:klicovaSlova
catocholamines; immunohistochemistry; succinate dehydrogenase complex genes; neurofibromatosis type 1; von Hippel-Lindau disease; multiple endocrine neoplasia type 2; pheochromocytoma; paraganglioma; genetic testing
n3:klicoveSlovo
n5:succinate%20dehydrogenase%20complex%20genes n5:pheochromocytoma n5:neurofibromatosis%20type%201 n5:paraganglioma n5:multiple%20endocrine%20neoplasia%20type%202 n5:immunohistochemistry n5:catocholamines n5:genetic%20testing n5:von%20Hippel-Lindau%20disease
n3:kodPristupu
n14:V
n3:kontrolniKodProRIV
[86561D2B3A1E]
n3:mistoVydani
New York
n3:objednatelVyzkumneZpravy
Springer New York
n3:obor
n4:FB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
3
n3:rokUplatneniVysledku
n17:2010
n3:tvurceVysledku
Fryšák, Zdeněk Pacák, Karel Karásek, David
n11:organizacniJednotka
15110