2026-07-16T16:02:52Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/262342025-12-18T12:57:06Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
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
2025-02-03T06:48:34Z
2025-02-03T06:48:34Z
2004-01-01
Cancer Genet Cytogenet . 2004 Jan 1;148(1):35-43.
Cancer Genet Cytogenet
14697639
https://hdl.handle.net/20.500.12105/26234
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.
eng
COMPARATIVE GENOMIC HYBRIDIZATION
ALVEOLAR RHABDOMYOSARCOMA
HUMAN SARCOMAS
FUSION GENES
AMPLIFICATION
PAX7-FKHR
EXPRESSION
PAX3-FKH3
TUMORS
Molecular cytogenetic characterization of rhabdomyosarcoma cell lines.
research article
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