Download Solid Tumour Section t(2;22)(q34;q12) in angiomatoid fibrous histiocytoma Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Solid Tumour Section
Short Communication
t(2;22)(q34;q12) in angiomatoid fibrous
histiocytoma
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: December 2009
Online updated version : http://AtlasGeneticsOncology.org/Tumors/t0222q34q12AngioID5670.html
DOI: 10.4267/2042/44878
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Clinics and pathology
Genes involved and proteins
Disease
CREB1
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.
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.
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).
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.
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
Result of the chromosomal
anomaly
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.
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10)
Hybrid Gene
Description
5' EWSR1 - 3' CREB1. EWSR1 exon 7 is fused in
frame to CREB1 exon 7 in all cases so far studied.
994
t(2;22)(q34;q12) in angiomatoid fibrous histiocytoma
Huret JL
Rossi S, Szuhai K, Ijszenga M, Tanke HJ, Zanatta L, Sciot R,
Fletcher CD, Dei Tos AP, Hogendoorn PC. EWSR1-CREB1
and EWSR1-ATF1 fusion genes in angiomatoid fibrous
histiocytoma. Clin Cancer Res. 2007 Dec 15;13(24):7322-8
Fusion Protein
Description
Fusion of the N terminal transactivation domain of
EWSR1 to the DNA binding domain of CREB1.
Shao L, Singh V, Cooley L. Angiomatoid fibrous histiocytoma
with t(2;22)(q33;q12.2) and EWSR1 gene rearrangement.
Pediatr Dev Pathol. 2009 Mar-Apr;12(2):143-6
References
This article should be referenced as such:
Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher
CD, Ladanyi M. EWSR1-CREB1 is the predominant gene
fusion in angiomatoid fibrous histiocytoma. Genes
Chromosomes Cancer. 2007 Dec;46(12):1051-60
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10)
Huret JL. t(2;22)(q34;q12) in angiomatoid fibrous histiocytoma.
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10):994-995.
995