Head and Neck: Salivary gland tumors: Mucoepidermoid carcinoma with t(6;22)(p21;q12) EWSR1/POU5F1
2010-01-01 Jean-Loup Huret Affiliation1.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.
Description
Fusion of the N terminal transactivation domain of EWSR1 to the POU and the homeobox (DNA binding domain) of POU5F1.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16444749 | 2006 | Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene. | Behboudi A et al |
| 18338330 | 2008 | POU5F1, 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 |
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
