| Written | 2009-12 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE |
| ICD-Morpho | 8836/1 Angiomatoid fibrous histiocytoma |
| Atlas_Id | 5670 |
| Phylum | Soft Tissues::Angiomatoid fibrous histiocytoma |
| Clinics and Pathology |
| Disease | Angiomatoid fibrous histiocytoma is a rare soft-tissue tumour of low metastatic potential (local recurrence below 15% of cases, and metastases occur in less than 2% of patients), often located in the extremities; it is mostly found in children and young adults. Surgical excision is the treatment of choice. |
| Epidemiology | Twenty two cases of angiomatoid fibrous histiocytoma with a (2;22)(q34;q12) have so far been described; there were 13 male and 9 female patients, aged 16 years (median, range 3-38) (Antonescu et al., 2007; Rossi et al., 2007; Shao et al., 2009). |
| Pathology | Cases presented either a spindle or a mixed spindle and small cell morphology; there was no case of pure small cell morphology; one case showed pleomorphism; however, the prognosis in this later case has been as good as that of other cases. |
| Cytogenetics |
| Cytogenetics Morphological | The t(2;22)(q34;q12) appears to be the most frequent anomaly in angiomatoid fibrous histiocytoma, while the t(12;22)(q13;q12) (5' EWSR1 - 3' ATF1), and the t(12;16)(q13;p11) (5' FUS- 3' ATF1) are rarer. |
| Genes involved and Proteins |
| Gene Name | CREB1 |
| Location | 2q33 |
| Protein | Contains a KID domain (kinase inductible domain), a basic motif (DNA binding) and a leucine-zipper for dimerization, like ATF1. Stimulates transcription by binding the cAMP response element TGACGTCA (CRE). Transcription factor. |
| Gene Name | EWSR1 |
| Location | 22q12 |
| 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' CREB1. EWSR1 exon 7 is fused in frame to CREB1 exon 7 in all cases so far studied. |
| Fusion Protein | |
| Description | Fusion of the N terminal transactivation domain of EWSR1 to the DNA binding domain of CREB1. |
| Bibliography |
| EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. |
| Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M. |
| Genes Chromosomes Cancer. 2007 Dec;46(12):1051-60. |
| PMID 17724745 |
| EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma. |
| Rossi S, Szuhai K, Ijszenga M, Tanke HJ, Zanatta L, Sciot R, Fletcher CD, Dei Tos AP, Hogendoorn PC. |
| Clin Cancer Res. 2007 Dec 15;13(24):7322-8. |
| PMID 18094413 |
| Angiomatoid fibrous histiocytoma with t(2;22)(q33;q12.2) and EWSR1 gene rearrangement. |
| Shao L, Singh V, Cooley L. |
| Pediatr Dev Pathol. 2009 Mar-Apr;12(2):143-6. |
| PMID 18666823 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(2;22)(q34;q12) in angiomatoid fibrous histiocytoma |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(10):994-995. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/t0222q34q12AngioID5670.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | EWSR1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;22)(q34;q12) EWSR1/CREB1 | |
| 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 : Fri Jun 30 11:25:14 CEST 2017 |
For comments and suggestions or contributions, please contact us