PMID- 14697639 OWN - NLM STAT- MEDLINE DCOM- 20040304 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 148 IP - 1 DP - 2004 Jan 1 TI - Molecular cytogenetic characterization of rhabdomyosarcoma cell lines. PG - 35-43 AB - Alveolar rhabdomyosarcomas (ARMS) are soft-tissue tumors that are genetically characterized by the presence of reciprocal translocations that generate the fusion gene PAX3-FOXO1A or PAX7-FOXO1A. For the study of the biologic consequences of such rearrangements, several cell lines have been generated. However, established cell lines accumulate chromosome and genetic aberrations that make it difficult to draw significant conclusions. We have applied a set of techniques that includes spectral karyotyping, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and microarray CGH, to the most commonly used cell lines carrying the two fusion genes that are present in ARMS. We have identified the bacterial artificial chromosomes that cover the breakpoints at genes PAX3, PAX7, and FOXO1A, which can be used as FISH probes for the translocations. The RH30 cell line, positive for the PAX3-FOXO1A fusion gene, was found to be highly complex: wide range of chromosome number, more than 50 chromosome rearrangements, amplification of the hybrid gene, 24 DNA changes detected by conventional CGH, and 21 gene copy changes detected by microarray CGH (including several high-level amplifications). RMZ-RC2 cell line, positive for the PAX7-FOXO1A, was in the near-tetraploid range with only nonclonal structural rearrangements, amplification of the hybrid gene, 24 DNA changes by CGH, and 8 gene copy changes, confirming the previously reported high-level amplification of MYCN. FAU - Rodriguez-Perales, Sandra AU - Rodriguez-Perales S AD - Cytogenetics Unit, Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, C/ Melchor Fernandez Almagro 3, 28029 Madrid, Spain. FAU - Martinez-Ramirez, Angel AU - Martinez-Ramirez A FAU - de Andres, Sara Alvarez AU - de Andres SA FAU - Valle, Laura AU - Valle L FAU - Urioste, Miguel AU - Urioste M FAU - Benitez, Javier AU - Benitez J FAU - Cigudosa, Juan C AU - Cigudosa JC LA - eng PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 SB - IM MH - Cell Line, Tumor MH - *Chromosome Aberrations MH - Chromosome Banding MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Nucleic Acid Hybridization MH - Rhabdomyosarcoma/*genetics MH - Translocation, Genetic EDAT- 2003/12/31 05:00 MHDA- 2004/03/05 05:00 CRDT- 2003/12/31 05:00 PHST- 2003/12/31 05:00 [pubmed] PHST- 2004/03/05 05:00 [medline] PHST- 2003/12/31 05:00 [entrez] AID - S0165460803002164 [pii] AID - 10.1016/s0165-4608(03)00216-4 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2004 Jan 1;148(1):35-43. doi: 10.1016/s0165-4608(03)00216-4.