Head and Neck: Salivary gland tumors: Mucoepidermoid carcinoma 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

Clinics and Pathology

Epidemiology

One case to date, a 85-year-old male patient; The patient died of an unrelated disease one year after diagnosis (Behboudi et al., 2006; Moller et al., 2008).

Pathology

The mucoepidermoid carcinoma was poorly differentiated.

Genes Involved and Proteins

Gene name

POU5F1 (POU class 5 homeobox 1)

Location

6p21.33

Protein description

Homeobox protein (homeodomain in amino acids 230-289 in the 360 aa isoform) with a POU domain (in aa 138-212). Binds the sequence 5-ATTTGCAT-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 POU5F1. EWSR1 exon 6 is fused in frame to POU5F1 exon 2.

Bibliography

Pubmed IDLast YearTitleAuthors
164447492006Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene.Behboudi A et al
183383302008POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.Möller E et al

External Links

Citation

Jean-Loup Huret

Head and Neck: Salivary gland tumors: Mucoepidermoid carcinoma with t(6;22)(p21;q12) EWSR1/POU5F1

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6282/head-and-neck-salivary-gland-tumors-mucoepidermoid-carcinoma-with-t(6;22)(p21;q12)-ewsr1-pou5f1