The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Molecular Classification of Rhabdomyosarcoma—Genotypic and Phenotypic Determinants of Diagnosis
Open accessAbstract
Rhabdomyosarcoma (RMS) in children occurs as two major histological subtypes, embryonal (ERMS) and alveolar (ARMS). ERMS is associated with an 11p15.5 loss of heterozygosity (LOH) and may be confused with nonmyogenic, non-RMS soft tissue sarcomas. ARMS expresses the product of a genomic translocation that fuses FOXO1 (FKHR) with either PAX3 or PAX7 (P-F); however, at least 25% of cases lack these translocations. Here, we describe a genomic-based classification scheme that is derived from the combined gene expression profiling and LOH analysis of 160 cases of RMS and non-RMS soft tissue sarcomas that is at variance with conventional histopathological schemes. We found that gene expression profiles and patterns of LOH of ARMS cases lacking P-F translocations are indistinguishable from conventional ERMS cases. A subset of tumors that has been histologically classified as RMS lack myogenic gene expression. However, classification based on gene expression is possible using as few as five genes with an estimated error rate of less than 5%. Using immunohistochemistry, we characterized two markers, HMGA2 and TFAP2ss, which facilitate the differential diagnoses of ERMS and P-F RMS, respectively, using clinical material. These objectively derived molecular classes are based solely on genomic analysis at the time of diagnosis and are highly reproducible. Adoption of these molecular criteria may offer a more clinically relevant diagnostic scheme, thus potentially improving patient management and therapeutic RMS outcomes.
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Cites
In silico prediction of protein-protein interactions in human macrophages
Souiai, O., Guerfali, F., Ben Miled, S., Brun, C., & Benkahla, A. (2014) · BMC Research Notes · doi:10.1186/1756-0500-7-157 · Cited by 10,803
Significance analysis of microarrays applied to the ionizing radiation response
Tusher, V. G., Tibshirani, R., & Chu, G. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.091062498 · Cited by 10,568
Diagnosis of multiple cancer types by shrunken centroids of gene expression
Tibshirani, R., Hastie, T., Narasimhan, B., & Chu, G. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.082099299 · Cited by 2,930
Khan, J., Wei, J. S., Ringnér, M., Saal, L. H., Ladanyi, M., Westermann, F., Berthold, F., Schwab, M., Antonescu, C. R., Peterson, C., et al. (2001) · Nature Medicine · doi:10.1038/89044 · Cited by 2,644
Identifying biological themes within lists of genes with EASE
Hosack, D. A., Dennis, G., Sherman, B. T., Lane, H. C., & Lempicki, R. A. (2003) · Genome Biology · doi:10.1186/gb-2003-4-10-r70 · Cited by 1,950
Intergroup Rhabdomyosarcoma Study-IV: Results for Patients With Nonmetastatic Disease
Crist, W. M., Anderson, J. R., Meza, J. L., Fryer, C., Raney, R. B., Ruymann, F. B., Breneman, J., Qualman, S. J., Wiener, E., Wharam, M., et al. (2001) · Journal of Clinical Oncology · doi:10.1200/jco.2001.19.12.3091 · Cited by 1,087
Self-citationPitfalls in the Use of DNA Microarray Data for Diagnostic and Prognostic Classification
Simon, R., Radmacher, M. D., Dobbin, K., & McShane, L. M. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/95.1.14 · Cited by 1,006
Sorensen, P. H. B., Lynch, J. C., Qualman, S. J., Tirabosco, R., Lim, J. F., Maurer, H. M., Bridge, J. A., Crist, W. M., Triche, T. J., & Barr, F. G. (2002) · Journal of Clinical Oncology · doi:10.1200/jco.2002.03.137 · Cited by 742
Self-citationMolecular characterisation of soft tissue tumours: a gene expression study
Nielsen, T. O., West, R. B., Linn, S. C., Alter, O., Knowling, M. A., O'Connell, J. X., Zhu, S., Fero, M., Sherlock, G., Pollack, J. R., et al. (2002) · The Lancet · doi:10.1016/s0140-6736(02)08270-3 · Cited by 576
Getting your Pax straight: Pax proteins in development and disease
Chi, N., & Epstein, J. A. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(01)02594-x · Cited by 483
Cited by
Tremblay, A. M., Missiaglia, E., Galli, G. G., Hettmer, S., Urcia, R., Carrara, M., Judson, R. N., Thway, K., Nadal, G., Selfe, J. L., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.05.029 · Cited by 178
A call to ARMS: targeting the PAX3-FOXO1 gene in alveolar rhabdomyosarcoma
Olanich, M. E., & Barr, F. G. (2013) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2013.772136 · Cited by 39
Phelps, D., Bondra, K., Seum, S., Chronowski, C., Leasure, J., Kurmasheva, R. T., Middleton, S., Wang, D., Mo, X., & Houghton, P. J. (2015) · Pediatric Blood & Cancer · doi:10.1002/pbc.25465 · Cited by 27
Xu, Y., Zhou, Y., Wang, N., Lan, X., Zhang, C., Lei, C., & Chen, H. (2013) · Genome · doi:10.1139/gen-2012-0124 · Cited by 14
Metadata
- Authors
- Davicioni, E., Anderson, M. J., Finckenstein, F. G., Lynch, J. C., Qualman, S. J., Shimada, H., Schofield, D. E., Buckley, J. D., Meyer, W. H., Sorensen, P. H. B., & Triche, T. J.
- Venue
- The American Journal of Pathology
- Publisher
- Elsevier BV
- Published
- 2009-02
- Volume
- 174
- Issue
- 2
- Pages
- 550-564
- ISSN
- 0002-9440 (ISSN-L)
- OpenAlex
- W1504229479
- Cited by
- 297
- References
- 37
- FWCI
- 20.07
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Davicioni, E., Anderson, M. J., Finckenstein, F. G., Lynch, J. C., Qualman, S. J., Shimada, H., Schofield, D. E., Buckley, J. D., Meyer, W. H., Sorensen, P. H. B., & Triche, T. J. (2009). Molecular Classification of Rhabdomyosarcoma—Genotypic and Phenotypic Determinants of Diagnosis. The American Journal of Pathology. https://doi.org/10.2353/ajpath.2009.080631
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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