Genetic Alterations in Pediatric Medulloblastomas Detected by Comparative Genomic Hybridization
Takafumi Nishizaki, Katsumi Harada, Hisashi Kubota, Kei Harada, Satoshi Ozaki, Haruhide Ito, Kohsuke Sasaki
Abstract
Takafumi Nishizaki, Katsumi Harada, Hisashi Kubota, Kei Harada, Satoshi Ozaki, Haruhide Ito, Kohsuke Sasaki
Abstract
Children with medulloblastomas show diverse clinical courses even when receiving similar treatments. In this study, comparative genomic hybridization, which allows the detection of losses and gains in DNA copy number along the entire genome, was used to investigate the genetic alterations in 6 cases of medulloblastoma with adequate follow-up periods and similar treatments, and in a medulloblastoma cell line. In the cell line, the number of aberrations was the highest of all samples examined. In 6 clinical samples, frequently altered regions (more than 3 cases) observed in all medulloblastomas were gains of 7q and 17q (4 cases each), and of 2p, 2q and 7p (3 cases each). High-grade amplification was observed at the loci 8q, 17q and 21q, each in a single case. The case with the most favorable outcome 9 years after surgery had the smallest number of chromosomal changes among the cases examined. Our results may indicate that further acquisition of genetic alterations detected by comparative genomic hybridization are associated with unfavorable prognosis in patients with medulloblastomas.
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Children with medulloblastomas show diverse clinical courses even when receiving similar treatments. In this study, comparative genomic hybridization, which allows the detection of losses and gains in DNA copy number along the entire genome, was used to investigate the genetic alterations in 6 cases of medulloblastoma with adequate follow-up periods and similar treatments, and in a medulloblastoma cell line. In the cell line, the number of aberrations was the highest of all samples examined. In 6 clinical samples, frequently altered regions (more than 3 cases) observed in all medulloblastomas were gains of 7q and 17q (4 cases each), and of 2p, 2q and 7p (3 cases each). High-grade amplification was observed at the loci 8q, 17q and 21q, each in a single case. The case with the most favorable outcome 9 years after surgery had the smallest number of chromosomal changes among the cases examined. Our results may indicate that further acquisition of genetic alterations detected by comparative genomic hybridization are associated with unfavorable prognosis in patients with medulloblastomas.
Key concepts: Medulloblastoma, Comparative genomic hybridization, Genetics, Biology, Fluorescence in situ hybridization, Medicine, Genome, Chromosome