| Publikationstyp: | Beitrag in wissenschaftlicher Zeitschrift |
| Art der Begutachtung: | Peer review (Publikation) |
| Titel: | Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1 |
| Autor/-in: | Wachtel, Marco Dettling, Marcel Koscielniak, Eva Stegmaier, Sabine Treuner, Jörn Simon-Klingenstein, Katja Bühlmann, Peter Niggli, Felix K. Schäfer, Beat W. |
| DOI: | 10.1158/0008-5472.CAN-04-0844 |
| Erschienen in: | Cancer Research |
| Band(Heft): | 64 |
| Heft: | 16 |
| Seite(n): | 5539 |
| Seiten bis: | 5545 |
| Erscheinungsdatum: | 2004 |
| Verlag / Hrsg. Institution: | American Association for Cancer Research |
| Verlag / Hrsg. Institution: | Philadelphia |
| ISSN: | 0008-5472 0099-7013 0099-7374 1538-7445 |
| Sprache: | Englisch |
| Schlagwörter: | Base sequence; Chromosomes, human, pair 2; DNA-binding proteins; Gene expression profiling; Histone acetyltransferases; Humans; Molecular sequence data; Nuclear receptor coactivator 1; Oligonucleotide array sequence analysis; Oncogene proteins, fusion; PAX3 transcription factor; Paired box transcription factors; Rhabdomyosarcoma, alveolar; Rhabdomyosarcoma, embryonal; Trans-activators; Transcription factors; Translocation, genetic |
| Fachgebiet (DDC): | 572: Biochemie |
| Zusammenfassung: | Rhabdomyosarcoma is a pediatric tumor type, which is classified based on histological criteria into two major subgroups, namely embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma. The majority, but not all, alveolar rhabdomyosarcoma carry the specific PAX3(7)/FKHR-translocation, whereas there is no consistent genetic abnormality recognized in embryonal rhabdomyosarcoma. To gain additional insight into the genetic characteristics of these subtypes, we used oligonucleotide microarrays to measure the expression profiles of a group of 29 rhabdomyosarcoma biopsy samples (15 embryonal rhabdomyosarcoma, and 10 translocation-positive and 4 translocation-negative alveolar rhabdomyosarcoma). Hierarchical clustering revealed expression signatures clearly discriminating all three of the subgroups. Differentially expressed genes included several tyrosine kinases and G protein-coupled receptors, which might be amenable to pharmacological intervention. In addition, the alveolar rhabdomyosarcoma signature was used to classify an additional alveolar rhabdomyosarcoma case lacking any known PAX3 or PAX7 fusion as belonging to the translocation-positive group, leading to the identification of a novel translocation t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the nuclear receptor coactivator NCOA1, having similar transactivation properties as PAX3/FKHR. These experiments demonstrate for the first time that gene expression profiling is capable of identifying novel chromosomal translocations. |
| URI: | https://digitalcollection.zhaw.ch/handle/11475/4637 |
| Volltext Version: | Publizierte Version |
| Lizenz (gemäss Verlagsvertrag): | Lizenz gemäss Verlagsvertrag |
| Departement: | School of Engineering |
| Enthalten in den Sammlungen: | Publikationen School of Engineering |
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Wachtel, M., Dettling, M., Koscielniak, E., Stegmaier, S., Treuner, J., Simon-Klingenstein, K., Bühlmann, P., Niggli, F. K., & Schäfer, B. W. (2004). Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. Cancer Research, 64(16), 5539–5545. https://doi.org/10.1158/0008-5472.CAN-04-0844
Wachtel, M. et al. (2004) ‘Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1’, Cancer Research, 64(16), pp. 5539–5545. Available at: https://doi.org/10.1158/0008-5472.CAN-04-0844.
M. Wachtel et al., “Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1,” Cancer Research, vol. 64, no. 16, pp. 5539–5545, 2004, doi: 10.1158/0008-5472.CAN-04-0844.
WACHTEL, Marco, Marcel DETTLING, Eva KOSCIELNIAK, Sabine STEGMAIER, Jörn TREUNER, Katja SIMON-KLINGENSTEIN, Peter BÜHLMANN, Felix K. NIGGLI und Beat W. SCHÄFER, 2004. Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. Cancer Research. 2004. Bd. 64, Nr. 16, S. 5539–5545. DOI 10.1158/0008-5472.CAN-04-0844
Wachtel, Marco, Marcel Dettling, Eva Koscielniak, Sabine Stegmaier, Jörn Treuner, Katja Simon-Klingenstein, Peter Bühlmann, Felix K. Niggli, and Beat W. Schäfer. 2004. “Gene Expression Signatures Identify Rhabdomyosarcoma Subtypes and Detect a Novel T(2;2)(q35;P23) Translocation Fusing PAX3 to NCOA1.” Cancer Research 64 (16): 5539–45. https://doi.org/10.1158/0008-5472.CAN-04-0844.
Wachtel, Marco, et al. “Gene Expression Signatures Identify Rhabdomyosarcoma Subtypes and Detect a Novel T(2;2)(q35;P23) Translocation Fusing PAX3 to NCOA1.” Cancer Research, vol. 64, no. 16, 2004, pp. 5539–45, https://doi.org/10.1158/0008-5472.CAN-04-0844.
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