| Clinics and Pathology |
| Disease | Rhabdomyosarcomas, the most common pediatric soft tissue sarcomas, are tumours related to the skeletal muscle lineage. The 2 major subtypes are alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS). Other subtypes are botryoid, spindle cell, anaplastic, pleomorphic, and undifferentiated RMS. |
| Note | Most ARMS cases are characterised by either a t(2;13)(q35;q14), resulting in a PAX3/FOXO1 hybrid gene, or a t(1;13)(p36;q14) resulting in a PAX7/FOXO1 hybrid gene. Most ERMS are characterized by chromosome gains and a loss of heterozygocity in 11p15. |
| Epidemiology | Three cases of RMS with t(11;22)(q24;q12) have been described to date, including a two-years-old girl with a mixed embryonal and alveolar RMS, who died 14 months after diagnosis, a 4.5-year-old girl, also with a mixed embryonal and alveolar RMS, who was alive and well 9 months after diagnosis (Sorensen et al., 1993; Thorner et al., 1996). |
| Genetics |
| Note | A t(2;13) hybrid transcript was excluded in the two cases described by Thorner et al., 1996. In the 4.5-year-old girl case, a highly abnormal karyotype was found, with 85 to 200 chromosomes per mitosis, and MDM2 was amplified more than a hundred times. |
| Genes involved and Proteins |
| Gene Name | FLI1 |
| Location | 11q24 |
| Protein | From N-term to C-term: a 5' ETS domain, a Fli-1-specific transcriptional activation domain, and a 3' ETS transcriptional activation domain. Member of ETS transcription factor gene family. FLI1 binds to DNA in a sequence-specific manner. |
| Gene Name | EWSR1 |
| Location | 22q12 |
| Protein | From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing. |
| Result of the chromosomal anomaly |
| Hybrid Gene | |
| Description | 5' EWSR1 - 3' FLI1. EWSR1 exon 7 is fused in frame to FLI1 exon 6. |
| Fusion Protein | |
| Description | Fusion of the N terminal transactivation domain of EWSR1 to the ETS type DNA binding domain of FLI1. |
| Bibliography |
| Reverse transcriptase PCR amplification of EWS/FLI-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood. |
| Sorensen PH, Liu XF, Delattre O, Rowland JM, Biggs CA, Thomas G, Triche TJ. |
| Diagn Mol Pathol. 1993 Sep;2(3):147-57. |
| PMID 7506981 |
| Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types. |
| Thorner P, Squire J, Chilton-MacNeil S, Marrano P, Bayani J, Malkin D, Greenberg M, Lorenzana A, Zielenska M. |
| Am J Pathol. 1996 Apr;148(4):1125-38. |
| PMID 8644855 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic se arch in PubMed |
| Contributor(s) |
| Written | 06-2010 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(11;22)(q24;q12) in rhabdomyosarcomas (RMS). Atlas Genet Cytogenet Oncol Haematol. June 2010 . URL : http://AtlasGeneticsOncology.org/Tumors/t1122q24q12RhabdoID6285.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/handle/2042/44990/06-2010-t1122q24q12RhabdoID6285.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:39:36 CET 2013 |
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