Written | 2010-06 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
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 |
WHO/OMS Classification | Bones |
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 Name | FLI1 (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 Name | EWSR1 (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 |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:30:50 CET 2020 |
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