Soft Tissues: Embryonal rhabdomyosarcoma with t(4;22)(q35;q12) EWSR1/DUX4

2009-12-01   Jean-Loup Huret 

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

Clinics and Pathology


Only one case to date, a 19-year-old female patient with an embryonal RMS, who was alive and well 6 years after diagnosis (Sirvent et al., 2009).


Cytogenetics morphological

The t(4;22)(q35;q12) was the sole anomaly.

Genes Involved and Proteins

Gene name

DUX4 (double homeobox 4)



Protein description

DUX4 (double homeobox, chromosome 4) contains two homeodomains (about 60 amino acids, involved in DNA-binding), each similar in sequence to PAX3 and PAX7 homeodomains. It is a transcription factor DUX4 is involved in myogenic differentiation and cell-cycle control (Dixit et al., 2007).

Gene name

EWSR1 (Ewing sarcoma breakpoint region 1)



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


Breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 at 4q35. A 5 EWSR1 - 3 DUX4 hybrid gene is likely.


Pubmed IDLast YearTitleAuthors
179840562007DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.Dixit M et al
198372622009Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma.Sirvent N et al

External Links


Jean-Loup Huret

Soft Tissues: Embryonal rhabdomyosarcoma with t(4;22)(q35;q12) EWSR1/DUX4

Atlas Genet Cytogenet Oncol Haematol. 2009-12-01

Online version:;22)(q35;q12)-ewsr1-dux4