The occurrence of pediatric cancer in children born from assisted reproductive technologies has been sporadically reported. Chromosomal characterization of the neoplasic disease in this setting is poorly described. In the present study, neuroblastoma cells from a 13-month-old infant boy born after intracytoplasmatic sperm injection were characterized by combining conventional cytogenetics, fluorescence in situ hybridization (FISH), comparative genomic hybridization, and quantitative polymerase chain reaction methods. Cytogenetic analysis of neuroblastoma (NB) metaphase spreads at the time of diagnosis revealed numerous centromere-free extrachromosomal double minutes, suggesting high MYCN amplification. Comparative genomic hybridization analysis demonstrated the amplification of 2q24 approximately pter, with additional gain of the long arm of chromosome 17. Chromosome losses involved 8q, 9q, and 11q. No deletion of 1p was found. MYCN amplification was confirmed by quantitative polymerase chain reaction and fluorescence in situ hybridization analysis. This report describes several chromosomal abnormalities that were present in NB of a child born after intracytoplasmatic sperm injection. Besides some well described and prognostic genetic findings in NB as MYCN amplification, gain on 17q and losses on 9q and 11q23, we report an unusual deletion involving 8q region in this disease. Whether this genetic abnormality may be associated to assisted reproductive technologies deserves further investigation.
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