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Title: Comparative study of MLPA-FISH to determine DNA copy number alterations in neuroblastic tumors
Issue Date: 2011
Publisher: Murcia: F. Hernández
ISSN: 1699-5848
Related subjects: 616 - Patología. Medicina clínica. Oncología
Keywords: Neuroblastoma
Genetic alterations
Abstract: Neuroblastoma tumor cells show complex combinations of genetic aberrations, and to date many different methods have been used for their detection. To apply genome-wide techniques, such as Multiplex Ligation–dependent Probe Amplification (MLPA), in routine diagnosis their validation is appropriate and necessary. DNA copy number alterations in 129 cases of neuroblastic tumors were detected using MPLA, and the results validated by Fluorescence In Situ Hybridization (FISH) (MYCN gene, 1p36, 11q and 17q). Kappa index values showed very good concordance between the two techniques in detecting homogeneous MYCN amplification (1); 11q deletion (0.908) and 17q gain (0.922). The validation results showed that MLPA is a highly efficient technique for diagnosis based on the genetic aberrations in relevant regions in neuroblastoma, showing a high concordance with FISH.
Primary author: Villamón, E.
Piqueras, M.
Berbegall, A.P.
Tadeo, I.
Castel, V.
Navarro, S.
Noguera, R.
Published in: Histology and histopathology, Vol. 26, nº 3 (2011)
Document type: info:eu-repo/semantics/article
Number of pages / Extensions: 8
Rights: info:eu-repo/semantics/openAccess
Appears in Collections:Vol.26, nº3 (2011)

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