Download Solid Tumour Section t(11 22)(q24 12) in giant cell tumour of bone

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Solid Tumour Section
Short Communication
t(11;22)(q24;q12) in giant cell tumour of bone
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: June 2010
Online updated version : http://AtlasGeneticsOncology.org/Tumors/t1122q24q12GiantCellID6283.html
DOI: 10.4267/2042/44989
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology
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.
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.
Result of the chromosomal
anomaly
Genetics
Hybrid Gene
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).
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.
Genes involved and proteins
Fusion Protein
FLI1
Description
Fusion of the N terminal transactivation domain of
EWSR1 to the ETS type DNA binding domain of FLI1.
Location
11q24
Protein
From N-term to C-term: a 5' ETS domain, a Fli-1specific 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.
References
Scotlandi K, Chano T, Benini S, Serra M, Manara MC,
Cerisano V, Picci P, Baldini N. Identification of EWS/FLI-1
transcripts in giant-cell tumor of bone. Int J Cancer. 2000 Aug
1;87(3):328-35
EWSR1
This article should be referenced as such:
Location
22q12
Huret JL. t(11;22)(q24;q12) in giant cell tumour of bone. Atlas
Genet Cytogenet Oncol Haematol. 2011; 15(3):299.
Atlas Genet Cytogenet Oncol Haematol. 2011; 15(3)
299