| 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 |
| 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 May 14 13:48:23 CEST 2018 |
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