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Soft Tissues: Rhabdomyosarcomas with t(11;22)(q24;q12) EWSR1/FLI1

Written2010-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Identity

ICD-Topo C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 8902/3 Mixed type rhabdomyosarcoma
Atlas_Id 6285
Phylum Soft Tissues::Rhabdomyosarcoma

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 NameFLI1 (Friend leukemia virus integration 1)
Location 11q24.3
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 NameEWSR1 (Ewing sarcoma breakpoint region 1)
Location 22q12.2
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
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;22)(q24;q12) in rhabdomyosarcomas (RMS)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(3):300-301.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t1122q24q12RhabdoID6285.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;22)(q24;q12) EWSR1/FLI1

External links

Mitelman database t(11;22)(q24;q12) EWSR1/FLI1 [Case List]    t(11;22)(q24;q12) EWSR1/FLI1 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionEWSR1 (22q12.2) FLI1 (11q24.3)    [fusion1302] [fusion1303] [fusion165] [fusion166] [fusion167] [fusion168] [fusion169] [fusion170] [fusion171] [fusion172] [fusion173] [fusion174] [fusion175] [fusion176] [fusion177] [fusion178] [fusion179] [fusion180] [fusion181] [fusion182] [fusion183] [fusion184] [fusion185] [fusion204] [fusion205] [fusion227] [fusion228]
Mitelman databaseEWSR1/FLI1[MCList]    EWSR1 (22q12.2) FLI1 (11q24.3)   ins(11;22)(q24;q12q12)
TICdbEWSR1/FLI1    EWSR1 (22q12.2) FLI1 (11q24.3)
 
Disease databaseSoft Tissues: Rhabdomyosarcomas with t(11;22)(q24;q12) EWSR1/FLI1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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