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Soft Tissues: Angiomatoid fibrous histiocytoma with t(12;22)(q13;q12) EWSR1/ATF1

Written2009-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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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
WHO/OMS Classification Soft Tissues

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.


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 NameATF1 (activating transcription factor 1)
Location 12q13.12
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 NameEWSR1 (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' 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.


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


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 :

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

Mitelman database t(12;22)(q13;q12) [CaseList]     t(12;22)(q13;q12) [Transloc - MCList]   EWSR1/ATF1 Fusion - MCList]
COSMIC[ EWSR1 ]   [ ATF1 ]
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseEWSR1/ATF1[MCList]    EWSR1 (22q12.2) ATF1 (12q13.12)   t(12;22)(q13;q12)
TICdbEWSR1/ATF1    EWSR1 (22q12.2) ATF1 (12q13.12)
Disease databaseSoft Tissues: Angiomatoid fibrous histiocytoma with t(12;22)(q13;q12) EWSR1/ATF1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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