title: Rearrangement in the coding region of the MYCN gene in a subset of amplicons in a case of neuroblastoma with MYCN amplification.
abstract: The MYCN gene is often amplified but rarely rearranged in neuroblastoma. We report, for the first time, a rearrangement within the MYCN coding region in a metastatic neuroblastoma in a 3-year-old boy with MYCN amplification in his primary tumor. The rearrangement occurred 46 nucleotides downstream from the ATG codon in exon 2 of MYCN. The amplification level of the rearranged copies of the MYCN gene was lower than that of the unrearranged copies of MYCN. These results indicate that the rearrangement occurred after initial MYCN gene amplification. Monochromosomal somatic cell hybrid mapping of the novel region fused to exon 2 of MYCN localized it to chromosome 2, suggesting that this rearrangement resulted from an interstitial deletion, presumably within the MYCN amplicon itself.
authors.affiliation: Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA. chenb@mskcc.org
authors.forename: B
authors.initials: B
authors.lastname: Chen
authors.forename: S C
authors.initials: SC
authors.lastname: Jhanwar
authors.forename: M
authors.initials: M
authors.lastname: Ladanyi
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D001483:Base Sequence; D015139:Blotting, Southern; D002675:Child, Preschool; D002873:Chromosome Fragility; D003131:Combined Modality Therapy; D004273:DNA, Neoplasm / Q000032:analysis; D017809:Fatal Outcome; D005784:Gene Amplification; D015321:Gene Rearrangement; D016259:Genes, myc / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D009447:Neuroblastoma / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D016133:Polymerase Chain Reaction
chemical_list: D004273:DNA, Neoplasm