title: Identification and characterization of DNA imbalances in neuroblastoma by high-resolution oligonucleotide array comparative genomic hybridization.
abstract: Neuroblastoma (NB) is a pediatric tumor characterized by high genetic heterogeneity. Although the prognostic significance of some genomic abnormalities (i.e., MYCN amplification, 1p loss, and 17q gain) is recognized, genes that are involved in chromosome rearrangements remain largely unknown. Considerable progress has been made over the last years in characterizing DNA abnormalities by metaphase comparative genomic hybridization (mCGH) and array CGH (aCGH). Here we report a pilot study of 5 localized and 12 disseminated NB by 44,000 and of 4 out of 17 cases by 244,000 oligonucleotide aCGH. Localized tumors were predominantly characterized by losses of whole chromosomes 3, 4, 10, and 16, and gains of 6, 7, 8, 13, 17, 18, and 20, whereas disseminated tumors showed several structural aberrations including 17q gain and 3p and 11q losses. Characterization of chromosome 2p in MYCN-amplified NB revealed several structural rearrangements with regions of gain interspersed among sites of amplification, indicating that the MYCN amplicon may encompass several genes. The high-resolution zooming in chromosomal aberrant regions detected several micro-deletions and micro-amplifications in the NB genome. Our results indicate that the increased sensitivity of the aCGH also allows the identification of DNA aberrations in challenging samples (i.e., NB showing tissue and genetic heterogeneity).
authors: Translational Paediatric Oncology, National Institute for Cancer Research (IST), L.go R. Benzi, 10, 16132 Genoa, Italy. paola.scaruffi@istge.it
authors: Paola
authors: P
authors: Scaruffi
authors: Simona
authors: S
authors: Coco
authors: Francisco
authors: F
authors: Cifuentes
authors: Domenico
authors: D
authors: Albino
authors: Manoj
authors: M
authors: Nair
authors: Raffaella
authors: R
authors: Defferrari
authors: Katia
authors: K
authors: Mazzocco
authors: Gian Paolo
authors: GP
authors: Tonini
mesh_terms: D015139:Blotting, Southern; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics*; D016259:Genes, myc / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D007621:Karyotyping; D009447:Neuroblastoma / Q000175:diagnosis* / Q000235:genetics* / Q000556:secondary; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis; D010865:Pilot Projects; D011379:Prognosis
chemical_list: D004273:DNA, Neoplasm