Application of Comparative Genomic Hybridization, Spectral Karyotyping, and Microarray Analysis in the Identification of Subtype-Specific Patterns of Genomic Changes in Rhabdomyosarcoma

摘要: Abstract Rhabdomyosarcoma (RMS) in children occurs predominantly as two major histologically defined subtypes called embryonal RMS (RMS-E) and the prognostically less favorable alveolar (RMS-A) . Comparative genomic hybridization (CGH) was performed on 21 identified consistent gains affecting chromosomes 2 (8/10), 5 (5/10), 6 (3/10), 7 (7/10), 8 (9/10), 11 (6/10), 12 (5/10) RMS-E. Losses/deletions involved 19 (2/10) 4, 9, 10, 17, (1/10 each). High copy number amplification, involving 2p24 region (5/11) frequently, 12813-21 (2/11), 9p22 (1/11), 17822-25 (1/11) regions, detected RMS-A. Gene amplification at band present 6/12 tumors, each case, MYCN amplified, together with distally placed DDX1 gene. For these patients there a shorter disease free interval higher mortality than tumors without amplification. Detailed spectral karyotype analysis (SKY) cell lines (one of subtype) surprisingly high level structural change. expression studies Atlas Human Cancer Array (588 genes) showed that 153 genes generated signal similar intensity both lines, 45 appeared to have subtype-specific expression. The chromosomal location differentially expressed compared pattern alteration determined by CGH this study literature.