Detection of DNA gains and losses in ganglioneuroblastoma by comparative genomic hybridization

ABSTRACT The genetic changes in ganglioneuroblastoma, which represents an intermediate stage between neuroblastoma and ganglioneuroma, are not yet clear. Difficulty of performing cytogenetic studies on neuronal tumours have resulted in fewer studies. This study investigated the genomic copy number changes as well as their chromosomal locations, of the ganglioneuroblastoma samples belonging to 5 cases (3 male, 2 female) between the ages of 3-4, by comparative genomic hybridization and two-step degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). Gains in chromosomes 2p5.1-pter, 5pl5.1-pl5.3, +7, 13q22- q31 and +22 were detected as minimal common regions in 3 of our patients, while gains in chromosomes lp35, 4pl5.1, 10qll.2-q21.2, 12q24.32-qter, +13, 17pl2-pl3 and 18pll.35-pter were observed in 2 of our patients. No oncogenes were reported to be located in the chromosomal region of 13q21-q31 previously. This region may harbor a novel oncogene which contributes to the initiation and progression of ganglioneuroblastoma. Furthermore, whole chromosome amplification of choromosomes 22, which was detected in 3 of our patients, and which has been reported in previous studies on neuronal tumours, may play a specific role in the progression of ganglioneuroblastoma, with the YESP, SIS, PDGB, NRASL2 oncogenes it harbors. Key words: Comparative Genomic Hybridization, Degenerate Oligonucleotide Primed -Polymerase Chain Reaction, Ganglioneuroblastoma 111