Soft Tissues: Small round cell tumour with t(2;22)(q31;q12) EWSR1/SP3

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Written2009-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

ICD-Topo C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 8002/3 Malignant tumor, small cell type
Atlas_Id 6278
Phylum Soft Tissues::Small round cell tumor
WHO/OMS Classification Soft Tissues

2. Clinics and Pathology

Disease A case of undifferentiated small round cell tumour of the frontal region, with multiple metastases at diagnosis (in long bones, lungs, kidney), was described in a 16-year-old male patient. The patient died 20 months after diagnosis (Wang et al., 2007).

3. Cytogenetics

The t(2;22)(q31;q12) was the sole anomaly.

4. Genes involved and Proteins

Gene NameSP3 (Sp3 transcription factor)
Location 2q31.1
Protein From N-term to C-term: a transactivation domain, a repressor domain, and 3 C2H2 zinc finger domains. 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.

5. Result of the chromosomal anomaly

Hybrid Gene
Description 5' EWSR1 - 3' SP3. Fusion of EWSR1 exon 7 to exon 6 of SP3.
Fusion Protein
Description The N terminal transactivation domain of EWSR1 was fused to the zinc fingers (DNA binding domain) of SP3.

6. Bibliography

Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions.
Wang L, Bhargava R, Zheng T, Wexler L, Collins MH, Roulston D, Ladanyi M.
J Mol Diagn. 2007 Sep;9(4):498-509.
PMID 17690209

7. Citation

This paper should be referenced as such :
Huret, JL
t(2;22)(q31;q12) in a small round cell tumour
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):434-434.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

 t(2;22)(q31;q12) EWSR1/SP3

9. External links

Mitelman database t(2;22)(q31;q12) [CaseList]     t(2;22)(q31;q12) [Transloc - MCList]   EWSR1/SP3 Fusion - MCList]
COSMIC[ EWSR1 ]   [ SP3 ]
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionEWSR1 (22q12.2) SP3 (2q31.1)    [fusion278] [fusion279]
Mitelman databaseEWSR1/SP3[MCList]    EWSR1 (22q12.2) SP3 (2q31.1)   t(2;22)(q31;q12)
TICdbEWSR1/SP3    EWSR1 (22q12.2) SP3 (2q31.1)
Disease databaseSoft Tissues: Small round cell tumour with t(2;22)(q31;q12) EWSR1/SP3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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indexed on : Wed Nov 28 16:26:29 CET 2018

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