Publication type: Article in scientific journal
Type of review: Peer review (publication)
Title: Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1
Authors: 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
Published in: Cancer Research
Volume(Issue): 64
Issue: 16
Page(s): 5539
Pages to: 5545
Issue Date: 2004
Publisher / Ed. Institution: American Association for Cancer Research
Publisher / Ed. Institution: Philadelphia
ISSN: 0008-5472
0099-7013
0099-7374
1538-7445
Language: English
Subjects: 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
Subject (DDC): 572: Biochemistry
Abstract: 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
Fulltext version: Published version
License (according to publishing contract): Licence according to publishing contract
Departement: School of Engineering
Appears in collections: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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