Soft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1

2009-07-01   Jean-Loup Huret 

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

Clinics and Pathology

Epidemiology

One case to date, a 59-year-old female patient with a 10 years long history. The patient was well 7 months after treatment of a myoepithelioma with an uncertain degree of malignancy (Brandal et al., 2008).

Cytogenetics

Cytogenetics morphological

The t(1;22)(q23;q12) was the sole anomaly.

Genes Involved and Proteins

Gene name

PBX1 (pre-B-cell leukemia homeobox 1)

Location

1q23.3

Protein description

Homeobox protein (homeodomain in amino acids 233-295). Binds the sequence 5-ATCAATCAA-3. 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 PBX1. EWSR1 exon 7 is fused in frame to PBX1 exon 5.

Bibliography

Pubmed IDLast YearTitleAuthors
183832102008Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma.Brandal P et al

External Links

Citation

Jean-Loup Huret

Soft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1

Atlas Genet Cytogenet Oncol Haematol. 2009-07-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6277/soft-tissues-myoepithelioma-with-t(1;22)(q23;q12)-ewsr1-pbx1