Publication: Comparative study of MLPA-FISH to determine
DNA copy number alterations in neuroblastic tumors
Authors
Villamón, E. ; Piqueras, M. ; Berbegall, A.P. ; Tadeo, I. ; Castel, V. ; Navarro, S. ; Noguera, R.
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Publisher
Murcia: F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
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.
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