Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F11%3A10107123" target="_blank" >RIV/00216208:11310/11:10107123 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/11:9881 RIV/00216208:11130/11:7154 RIV/61989592:15110/11:10224809 RIV/00064203:_____/11:7154

Výsledek na webu

<a href="http://dx.doi.org/10.1007/s12253-011-9385-8" target="_blank" >http://dx.doi.org/10.1007/s12253-011-9385-8</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12253-011-9385-8" target="_blank" >10.1007/s12253-011-9385-8</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas

Popis výsledku v původním jazyce

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 aberr

Název v anglickém jazyce

Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas

Popis výsledku anglicky

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 aberr

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)<br>S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2011

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Pathology Oncology Research

ISSN

1219-4956

e-ISSN

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Svazek periodika

17

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

801-808

Kód UT WoS článku

000295588000003

EID výsledku v databázi Scopus

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