title: Evolution of unbalanced gain of distal chromosome 2p in neuroblastoma.
abstract: Neuroblastoma, one of the most common tumors of childhood, presents at diagnosis with a vast number of recurrent chromosomal imbalances that include hyperdiploidy for whole chromosomes, partial loss of 1p, 3p, 4p, 11q, 14q, partial gain of 1q, 7q, 17q and amplification of MYCN. These abnormalities are nonrandomly distributed in neuroblastoma as loss of 3p and 11q rarely occur in MYCN amplified neuroblastomas. Here, we report on a patient who had a non-MYCN amplified 3p-/11q- neuroblastoma at diagnosis who subsequently developed a high level of MYCN amplification in bone marrow metastases 41 months after induction of complete remission. The tumor at diagnosis had low level unbalanced gain of distal 2p. In order to assess the frequency of low level gain of distal 2p in neuroblastoma, we examined the comparative genomic hybridization results from 60 neuroblastomas. Among non-MYCN amplified neuroblastomas, 8/45 (18%) had low level gain of distal 2p. Low level gain for a segment of 2p (i.e. a region larger than the 2p23-->p24 undergoing amplification) was also detected in five of the 15 tumors that had high level MYCN amplification. The possibility that low level gain of distal 2p is a risk factor for high level MYCN amplification is discussed.
authors.affiliation: National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. ray.stallings@olhsc.ie
authors.forename: R L
authors.initials: RL
authors.lastname: Stallings
authors.forename: P
authors.initials: P
authors.lastname: Carty
authors.forename: L
authors.initials: L
authors.lastname: McArdle
authors.forename: M
authors.initials: M
authors.lastname: Mullarkey
authors.forename: M
authors.initials: M
authors.lastname: McDermott
authors.forename: A
authors.initials: A
authors.lastname: O'Meara
authors.forename: E
authors.initials: E
authors.lastname: Ryan
authors.forename: D
authors.initials: D
authors.lastname: Catchpoole
authors.forename: F
authors.initials: F
authors.lastname: Breatnach
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D005784:Gene Amplification; D016259:Genes, myc; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology; D009693:Nucleic Acid Hybridization / Q000379:methods; D014314:Trisomy