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

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/deep-insight-explorer/