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01-07-2008 | Original Article

Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma

Authors: Eva Villamón, Marta Piqueras, Carlos Mackintosh, Javier Alonso, Enrique de Álava, Samuel Navarro, Rosa Noguera

Published in: Virchows Archiv | Issue 1/2008

Abstract

Neuroblastoma (NB) is a pediatric neoplasia that shows complex combinations of acquired genetic aberrations. The specific genes and the molecular mechanisms responsible for development and progression of NB remain poorly understood. Our main objective is to compare the results obtained with different techniques for the detection of genomic data in 20 patients with NB using the information obtained to select the appropriate technique in routine analysis for the therapeutic stratification. The genetic methods used in this study are multiprobe fluorescence in situ hybridization (FISH) assay, metaphasic comparative genomic hybridization (mCGH), array comparative genomic hybridization (aCGH), and the multiplex ligation-dependent probe amplification (MLPA). Genomic copy number abnormalities were used to group the cases in four categories: MYCN amplification cases; 11q deletion tumors; cases with partial chromosome gains or losses and samples with entire chromosome alterations. The data obtained from the multigenomic techniques showed a high degree of concordance and our findings support the hypothesis that NB consists of biologically distinct subgroups that differ by genetic characteristics of prognostic relevance. FISH will be essential for the mandatory study of MYCN status. The use of MLPA as routine technique is an advantage procedure for detecting the implication of the common genetic alterations in NB.

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Title: Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma
Authors: Eva Villamón
Marta Piqueras
Carlos Mackintosh
Javier Alonso
Enrique de Álava
Samuel Navarro
Rosa Noguera
Publication date: 01-07-2008
Publisher: Springer-Verlag
Published in: Virchows Archiv / Issue 1/2008
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-008-0633-6

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Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma

Abstract

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