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

2009-06-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

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 (activating transcription factor 1)

Location

12q13.12

Protein description

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: 5GTGACGT(A/C)(A/G)-3. Transcription factor.

Gene name

EWSR1 (Ewing sarcoma breakpoint region 1)

Location

22q12.2

Protein description

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

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.

Bibliography

Pubmed IDLast YearTitleAuthors
177247452007EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma.Antonescu CR et al
183008002008Primary 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 et al
171884282007Fusion genes in angiomatoid fibrous histiocytoma.Hallor KH et al
180944132007EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma.Rossi S et al

External Links

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6286/soft-tissues-angiomatoid-fibrous-histiocytoma-with-t(12;22)(q13;q12)-ewsr1-atf1