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Título: A multilocus technique for risk evaluation of patients with neuroblastoma
Autor: Ambros, Inge M.
Brunner, Bettina
Aigner, Gerhard
Bedwell, Clare
Beiske, Klaus
Bénard, Jean
Bown, Nick
Combaret, Valerie
Couturier, Jerome
Defferrari, Raffaella
Gross, Nicole
Jeison, Marta
Lunec, John
Marques, Barbara
Martinsson, Tommy
Mazzocco, Katia
Noguera, Rosa
Schleiermacher, Gudrun
Speleman, Frank
Stallings, Ray
Tonini, Gian Paolo
Tweddle, Deborah A.
Valent, Alexander
Vicha, Ales
Van Roy, Nadine
Villamon, Eva
Ziegler, Andrea
Preuner, Sandra
Drobics, Mario
Ladenstein, Ruth
Amann, Gabriele
Schuit, Robert J.L.
Pötschger, Ulrike
Ambros, Peter F.
Palavras-chave: Doenças Genéticas
Issue Date: 15-Feb-2011
Editora: American Association for Cancer Research Journals
Citação: Clin Cancer Res. 2011 Feb 15;17(4):792-804
Resumo: Purpose: Precise and comprehensive analysis of neuroblastoma genetics is essential for accurate risk evaluation and only pangenomic/multilocus approaches fulfill the present-day requirements. We present the establishment and validation of the PCR-based multiplex ligation-dependent probe amplification (MLPA) technique for neuroblastoma. Experimental Design: A neuroblastoma-specific MLPA kit was designed by the SIOP Europe Neuroblastoma Biology Committee in cooperation with MRC-Holland. The contained target sequences cover 19 chromosomal arms and reference loci. Validation was performed by single locus and pangenomic techniques (n ¼ 174). Dilution experiments for determination of minimal tumor cell percentage were performed and testing of reproducibility was checked by interlaboratory testing (n ¼ 15). Further 156 neuroblastomas were used for establishing the amplification cutoff level. Results: The MLPA technique was tested in 310 neuroblastomas and 8 neuroblastoma cell lines (including validation and amplification cutoff level testing). Intertechnique validation showed a high concordance rate (99.5%). Interlaboratory MLPA testing (k ¼ 0.95, P < 0.01) revealed 7 discrepant of 1,490 results (0.5%). Validation by pangenomic techniques showed a single discordance of 190 consensus results (0.5%). The test results led to formulation of interpretation standards and to a kit revision. The minimal tumor cell percentage was fixed at 60%. Conclusions: The recently designed neuroblastoma-specific MLPA kit covers all chromosomal regions demanded by the International Neuroblastoma Risk Group for therapy stratification and includes all hitherto described genetic loci of prognostic interest for future studies and can be modified or extended at any time. Moreover, the technique is cost effective, reliable, and robust with a high interlaboratory and intertechnique concordance.
Arbitragem científica: yes
ISSN: 1557-3265
Versão do Editor:
Appears in Collections:DGH - Artigos em revistas internacionais

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