Soft Tissues: Undifferentiated sarcoma with t(6;22)(p21;q12) EWSR1/POU5F1

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Written2010-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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1. Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho 8805/3 Undifferentiated sarcoma
Atlas_Id 5411
Phylum Soft Tissues:x::Undifferentiated sarcoma
WHO/OMS Classification Soft Tissues

2. Clinics and Pathology

Disease A case of undifferentiated sarcoma of the pubic bone, with multiple pulmonary metastases at diagnosis, was described in a 39-year-old female patient. The patient died 6 months after diagnosis (Yamaguchi et al., 2005).

3. Cytogenetics

The t(6;22)(p21;q12) was accompanied with a marker chromosome.

4. Genes involved and Proteins

Gene NamePOU5F1 (POU class 5 homeobox 1)
Location 6p21.33
Protein 360 amino acids in the longest isoform; contains a bipartte DNA-binding domain, composed of a POU- specific domain (amino acids 138-212), and a homeobox (aa 230-289). Transcription factor with a major role during embryogenesis. Binds specifically ATTTGCAT.

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.

5. Result of the chromosomal anomaly

Hybrid Gene
Description 5' EWSR1 - 3' POU5F1. Fusion of exons 1-6 of EWSR1 to part of exon 1, and exons 2-5 of POU5F1.
Fusion Protein
Description The N terminal transactivation domain of EWSR1 was fused to the DNA binding domains of POU5F1.

6. Bibliography

EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).
Yamaguchi S, Yamazaki Y, Ishikawa Y, Kawaguchi N, Mukai H, Nakamura T.
Genes Chromosomes Cancer. 2005 Jun;43(2):217-22. Erratum in: Genes Chromosomes Cancer. 2008 Mar;47(3):266.
PMID 15729702

7. Citation

This paper should be referenced as such :
Huret, JL
t(6;22)(p21;q12) in undifferentiated sarcoma
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1087-1087.
Free journal version : [ pdf ]   [ DOI ]
On line version :

8. Translocations implicated (Data extracted from papers in the Atlas)

 t(6;22)(p21;q12) EWSR1/POU5F1

9. External links

Mitelman database t(6;22)(p21;q12) [CaseList]     t(6;22)(p21;q12) [Transloc - MCList]   EWSR1/POU5F1 Fusion - MCList]
COSMIC[ EWSR1 ]   [ POU5F1 ]
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionEWSR1 (22q12.2) POU5F1 (6p21.33)    [fusion1305] [fusion1306] [fusion322] [fusion323] [fusion324]
Mitelman databaseEWSR1/POU5F1[MCList]    EWSR1 (22q12.2) POU5F1 (6p21.33)   t(6;22)(p21;q12)
TICdbEWSR1/POU5F1    EWSR1 (22q12.2) POU5F1 (6p21.33)
Disease databaseSoft Tissues: Undifferentiated sarcoma with t(6;22)(p21;q12) EWSR1/POU5F1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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indexed on : Wed Nov 28 16:26:31 CET 2018

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