Genetic instability and intratumoral heterogeneity in neuroblastoma with MYCN amplification plus 11q deletion

Genetic analysis in neuroblastoma has identified the profound influence of MYCN amplification and 11q deletion in patients' prognosis. These two features of high-risk neuroblastoma usually occur as mutually exclusive genetic markers, although in rare cases both are present in the same tumor. Th...

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Bibliographic Details
Published in:PloS one 2013-01, Vol.8 (1), p.e53740
Main Authors: Villamón, Eva, Berbegall, Ana P, Piqueras, Marta, Tadeo, Irene, Castel, Victoria, Djos, Anna, Martinsson, Tommy, Navarro, Samuel, Noguera, Rosa
Format: Article
Language:English
Subjects:
Aberration
Amplification
Analysis
Biology
Cancer
Child
Child, Preschool
Chromosome aberrations
Chromosome Breakpoints
Chromosome Deletion
Chromosomes
Chromosomes, Human, Pair 11 - genetics
Deoxyribonucleic acid
Development and progression
DNA
Female
Gene Amplification
Gene expression
Genetic analysis
Genetic aspects
Genetic markers
Genetic Markers - genetics
Genetic Predisposition to Disease - genetics
Genetic screening
Genomes
Genomic instability
Heterogeneity
Humans
Infant
Male
Medical Genetics
Medical prognosis
Medical schools
Medicine
Medicinsk genetik
Multiplexing
N-Myc Proto-Oncogene Protein
Neuroblastoma
Neuroblastoma - genetics
Neuroblastoma - pathology
Nuclear Proteins - genetics
Oncogene Proteins - genetics
Oncology
Pathology
Pediatrics
Polymorphism
Polymorphism, Single Nucleotide
Prognosis
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Stability
Tumors
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Summary:Genetic analysis in neuroblastoma has identified the profound influence of MYCN amplification and 11q deletion in patients' prognosis. These two features of high-risk neuroblastoma usually occur as mutually exclusive genetic markers, although in rare cases both are present in the same tumor. The purpose of this study was to characterize the genetic profile of these uncommon neuroblastomas harboring both these high-risk features. We selected 18 neuroblastomas with MNA plus 11q loss detected by FISH. Chromosomal aberrations were analyzed using Multiplex Ligation-dependent Probe Amplification and Single Nucleotide Polymorphism array techniques. This group of tumors has approximately the same high frequency of aberrations as found earlier for 11q deleted tumors. In some cases, DNA instability generates genetic heterogeneity, and must be taken into account in routine genetic diagnosis.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0053740