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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F11%3A7154%21RIV12-MZ0-00064203
rdf:type
n15:Vysledek skos:Concept
rdfs:seeAlso
http://www.ncbi.nlm.nih.gov/pubmed/21461997
dcterms:description
Pheochromocytomas (PCCs) are rare tumors among children and adolescents and therefore are not genetically well characterized. The most frequently observed chromosomal changes in PCC are losses of 1p, 3q and/or 3p, 6q, 17p, 11q, 22q, and gains of 9q and 17q. Aberrations involving chromosome 11 are more common in malignant tumors. Unfortunately information about gene aberrations in childhood PCC's is limited. We used comparative genomic hybridization (CGH) and array comparative genomic hybridization (aCGH) to screen for copy number changes in four children suffering from pheochromocytoma or paraganglioma. Patients were diagnosed at the age 13 or 14 years. Bilateral pheochromocytoma was associated with von Hippel-Lindau syndrome (VHL). Multiple paraganglioma was associated with a germline mutation in SDHB. We found very good concordance between the results of CGH and aCGH techniques. Losses were observed more frequently than gains. All cases had a loss of chromosome 11 or 11p. Other aberrations were loss of chromosome 3 and 11 in sporadic pheochromocytoma, and loss of 3p and 11p in pheochromocytoma, which carried the VHL mutation. The deletion of chromosome 1p and other changes were observed in paragangliomas. We conclude that both array CGH and CGH analysis identified similar chromosomal regions involved in tumorigenesis of pheochromocytoma and paragangliomas, but we found 3 discrepancies between the methods. We didn't find any, of the proposed, molecular markers of malignancy in our benign cases and therefore we speculate that molecular cytogenetic examination may be helpful in separating benign and malignant forms in the future. Pheochromocytomas (PCCs) are rare tumors among children and adolescents and therefore are not genetically well characterized. The most frequently observed chromosomal changes in PCC are losses of 1p, 3q and/or 3p, 6q, 17p, 11q, 22q, and gains of 9q and 17q. Aberrations involving chromosome 11 are more common in malignant tumors. Unfortunately information about gene aberrations in childhood PCC's is limited. We used comparative genomic hybridization (CGH) and array comparative genomic hybridization (aCGH) to screen for copy number changes in four children suffering from pheochromocytoma or paraganglioma. Patients were diagnosed at the age 13 or 14 years. Bilateral pheochromocytoma was associated with von Hippel-Lindau syndrome (VHL). Multiple paraganglioma was associated with a germline mutation in SDHB. We found very good concordance between the results of CGH and aCGH techniques. Losses were observed more frequently than gains. All cases had a loss of chromosome 11 or 11p. Other aberrations were loss of chromosome 3 and 11 in sporadic pheochromocytoma, and loss of 3p and 11p in pheochromocytoma, which carried the VHL mutation. The deletion of chromosome 1p and other changes were observed in paragangliomas. We conclude that both array CGH and CGH analysis identified similar chromosomal regions involved in tumorigenesis of pheochromocytoma and paragangliomas, but we found 3 discrepancies between the methods. We didn't find any, of the proposed, molecular markers of malignancy in our benign cases and therefore we speculate that molecular cytogenetic examination may be helpful in separating benign and malignant forms in the future.
dcterms:title
Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas
skos:prefLabel
Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas
skos:notation
RIV/00064203:_____/11:7154!RIV12-MZ0-00064203
n15:predkladatel
n16:ico%3A00064203
n3:aktivita
n4:Z n4:S n4:I
n3:aktivity
I, S, Z(MSM0021620808), Z(MSM0021620813), Z(MZ0FNM2005)
n3:cisloPeriodika
4
n3:dodaniDat
n6:2012
n3:domaciTvurceVysledku
n10:3061612 n10:9974687 n10:3149072 n10:2084341 n10:3138380 n10:3555828
n3:druhVysledku
n17:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
213484
n3:idVysledku
RIV/00064203:_____/11:7154
n3:jazykVysledku
n9:eng
n3:klicovaSlova
Pheochromocytoma; Paraganglioma; Comparative genomic hybridization; Pediatric; Microarray; comparative genomic hybridization; malignant pheochromocytoma; sporadic pheochromocytomas; familial pheochromocytoma; chromosomes 1p; lindau disease; frequent loss; heterozygosity; mutations; children
n3:klicoveSlovo
n8:Pheochromocytoma n8:lindau%20disease n8:sporadic%20pheochromocytomas n8:malignant%20pheochromocytoma n8:children n8:mutations n8:chromosomes%201p n8:heterozygosity n8:frequent%20loss n8:comparative%20genomic%20hybridization n8:Pediatric n8:familial%20pheochromocytoma n8:Comparative%20genomic%20hybridization n8:Paraganglioma n8:Microarray
n3:kodStatuVydavatele
HU - Maďarsko
n3:kontrolniKodProRIV
[F8E9B04BE720]
n3:nazevZdroje
Pathology & Oncology Research
n3:obor
n12:FD
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
9
n3:rokUplatneniVysledku
n6:2011
n3:svazekPeriodika
17
n3:tvurceVysledku
Eckschlager, Tomáš Kodet, Roman Vícha, Aleš Křepelová, Anna Holzerova, M. Musil, Z. Jarosova, M. Sumerauer, David Procházka, Pavel
n3:wos
000295588000003
n3:zamer
n13:MSM0021620808 n13:MSM0021620813 n13:MZ0FNM2005
s:issn
1219-4956
s:numberOfPages
8