2026-05-21T23:13:45Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/262342025-12-18T12:57:06Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Rodriguez Perales, Sandra author Martínez-Ramírez, Angel author de Andrés, Sara Alvarez author Valle, Laura author Urioste, Miguel author Benítez, Javier author Cigudosa, Juan C author 2004-01-01 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. Cancer Genet Cytogenet . 2004 Jan 1;148(1):35-43. Cancer Genet Cytogenet 14697639 https://hdl.handle.net/20.500.12105/26234 COMPARATIVE GENOMIC HYBRIDIZATION ALVEOLAR RHABDOMYOSARCOMA HUMAN SARCOMAS FUSION GENES AMPLIFICATION PAX7-FKHR EXPRESSION PAX3-FKH3 TUMORS Molecular cytogenetic characterization of rhabdomyosarcoma cell lines.