Figure 1.

Non-random chromosomal alterations found in association with RMS tumors. (A) ERMS-associated loss of heterozygosity in the p15.5 region of chromosome 11. Altered expression of some imprinted genes in ERMS is highlighted in red (down-regulation) and blue (up-regulation). (B) Reciprocal chromosomal translocations identified in ARMS tumors. The t(2;13) translocation is the most common gene re-arrangement. All translocations involve disruption of muscle-developmental PAX genes, PAX3 and PAX7. Each reciprocal translocation generates two fusion gene products, PAX-X and X-PAX, where X represents a member of the FOXO transcription factor family or a member of the nuclear co-activator NCOA family. Only the PAX-X fusion genes have been cloned and studied. FKHR-PAX3 is the only reciprocal gene whose transcript is detected in a fraction of t(2;13)-positive ARMS tumors and cell lines. Other X-PAX reciprocal genes have not been investigated.