| Written | 2009-06 | 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 | 6286 |
| 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 | Six cases of angiomatoid fibrous histiocytoma with a t(12;22)(q13;q12) have so far been described; there were 4 male and 2 female patients, aged 9, 10, 11, 25, 26, and 79 years (Hallor et al., 2005; Antonescu et al., 2007; Hallor et al., 2007; Rossi et al., 2007; Dunham et al., 2008). |
| Pathology | Cases seemed to have presented a spindle morphology preferentially, but data is too scarce. |
| Cytogenetics |
| Cytogenetics Morphological | The t(12;22)(q13;q12), as well as the t(12;16)(q13;p11) (5' FUS - 3' ATF1), are rarer than the t(2;22)(q34;q12) (5' EWSR1 - 3' CREB1) in angiomatoid fibrous histiocytoma. |
| Genes involved and Proteins |
| Gene Name | ATF1 |
| Location | 12q13 |
| Protein | Contains a KID domain (kinase inductible domain), a basic motif (DNA binding) and a leucine-zipper for dimerization, like CREB1. DNA binding protein, binds the consensus sequence: 5'GTGACGT(A/C)(A/G)-3'. 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' ATF1. EWSR1 exon 7 is fused in frame to ATF1 exon 5 in all but one case, where EWSR1 exon 8 was fused in frame to ATF1 exon 4. |
| Fusion Protein | |
| Description | Fusion of the N terminal transactivation domain of EWSR1 to the DNA binding domain of ATF1. |
| 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 |
| Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes. |
| Dunham C, Hussong J, Seiff M, Pfeifer J, Perry A. |
| Am J Surg Pathol. 2008 Mar;32(3):478-84. |
| PMID 18300800 |
| Fusion genes in angiomatoid fibrous histiocytoma. |
| Hallor KH, Micci F, Meis-Kindblom JM, Kindblom LG, Bacchini P, Mandahl N, Mertens F, Panagopoulos I. |
| Cancer Lett. 2007 Jun 18;251(1):158-63. Epub 2006 Dec 22. |
| PMID 17188428 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(12;22)(q13;q12) in angiomatoid fibrous histiocytoma |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(5):499-500. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/t1222q13q12AngiomaID6286.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | ATF2 | EWSR1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;22)(q13;q12) EWSR1/ATF1 | |
| 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 11:25:17 CEST 2017 |
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