Bone: Giant cell tumour with t(11;22)(q24;q12) EWSR1/FLI1

2010-06-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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 name

FLI1 (Friend leukemia virus integration 1)

Location

11q24.3

Protein description

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 (Ewing sarcoma breakpoint region 1)

Location

22q12.2

Protein description

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

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.

Bibliography

Pubmed IDLast YearTitleAuthors
108970362000Identification of EWS/FLI-1 transcripts in giant-cell tumor of bone.Scotlandi K et al

External Links

Citation

Jean-Loup Huret

Bone: Giant cell tumour with t(11;22)(q24;q12) EWSR1/FLI1

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6283/bone-giant-cell-tumour-with-t(11;22)(q24;q12)-ewsr1-fli1