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

2009-05-01   Jean-Loup Huret  

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

Cytogenetics

Cytogenetics morphological

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

Genes Involved and Proteins

Gene name

SP3 (Sp3 transcription factor)

Location

2q31.1

Protein description

From N-term to C-term: a transactivation domain, a repressor domain, and 3 C2H2 zinc finger domains. 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 SP3. Fusion of EWSR1 exon 7 to exon 6 of SP3.

Description

The N terminal transactivation domain of EWSR1 was fused to the zinc fingers (DNA binding domain) of SP3.

Article Bibliography

Pubmed IDLast YearTitleAuthors
176902092007Undifferentiated 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 et al

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6278/cancer-prone-explorer/tumors-explorer/js/_common.js