CareLit Fachartikel

Analysis of chromosome 1q gain as genetic marker for risk stratification of pediatric ependymoma patients by multiplex ligation-dependent probe amplification (MLPA)

N Velez-Char, E Dörner, A zur Mühlen, AO von Beuren, S Rutkowski, T Pietsch · Klinische Pädiatrie · 2012 · Heft 04

Dokument
1110249
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Jahr
2012
Publikation
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DOI
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Bibliografische Angaben

Zeitschrift
Klinische Pädiatrie
Autor:innen
N Velez-Char, E Dörner, A zur Mühlen, AO von Beuren, S Rutkowski, T Pietsch
Ausgabe
Heft 04 / 2012
Seiten
–
Erschienen: 2012-04-27 00:00:00
ISSN
0300-8630
DOI
10.1055/s-0032-1310497

Zusammenfassung

Introduction: In retrospective series of patients suffering ependymoma, gain of material of chromosome arm 1q was identified to predict worse outcome. So far, this marker was mainly assessed by FISH analysis. Methods & Results: To validate this marker in a defined patient cohort, we analysed chromosome 1q in 138 consecutive cases enrolled into the HIT2000 trial in which formalin-fixed, paraffin embedded material was available for DNA extraction. By using MLPA for 5 markers located on chromosome 1q and control markers, we were able to analyse 137/138 cases (99%) and found 1q gain in 21 cases (15.3%). Patients wit…

Schlagworte

Marker Patients Chromosome Cases Analysis Ependymoma Material Which Markers Genetic Stratification Pediatric Klinische Pädiatrie