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Bone: Giant cell tumour 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

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho 9250/1 Giant cell tumour
Atlas_Id 6283
Phylum Bones::Giant cell tumor

Clinics and Pathology

Disease Giant cell tumour of bone is a locally destructive tumor, usually seen in patients over 20 years of age, a borderline lesion between benign and malignant tumours, with a good prognosis, despite of recurrences and, more rarely, pulmonary metastases. The most frequent genetic finding is telomeric associations.

Genetics

Note In a study by Scotlandi et al., 2000, was found that a minor population of cells from giant cell tumour of bone samples had an EWSR1/FLI1 transcript, but this was found in a high percentage of samples (13/15).

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 and/or 5 (type 1 and type 2 fusions respectively), indicating, when both transcripts were produced in a given sample, genetic heterogeneity within the tumour.
Fusion Protein
Description Fusion of the N terminal transactivation domain of EWSR1 to the ETS type DNA binding domain of FLI1.
  

Bibliography

Identification of EWS/FLI-1 transcripts in giant-cell tumor of bone.
Scotlandi K, Chano T, Benini S, Serra M, Manara MC, Cerisano V, Picci P,Baldini N.
Int J Cancer. 2000 Aug 1;87(3):328-35.
PMID 10897036
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;22)(q24;q12) in giant cell tumour of bone
Atlas Genet Cytogenet Oncol Haematol. 2011;15(3):299-299.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t1122q24q12GiantCellID6283.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 ( C40,C41) 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 databaseBone: Giant cell tumour with t(11;22)(q24;q12) EWSR1/FLI1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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indexed on : Tue Nov 21 15:11:41 CET 2017


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