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

2010-01-01   Jean-Loup Huret 

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

Cytogenetics

Cytogenetics morphological

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

Genes Involved and Proteins

Gene name

POU5F1 (POU class 5 homeobox 1)

Location

6p21.33

Protein description

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 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 POU5F1. Fusion of exons 1-6 of EWSR1 to part of exon 1, and exons 2-5 of POU5F1.

Bibliography

Pubmed IDLast YearTitleAuthors
157297022005EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).Yamaguchi S et al

External Links

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/5411/soft-tissues-undifferentiated-sarcoma-with-t(6;22)(p21;q12)-ewsr1-pou5f1