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

Written2010-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Topo C079-C081,C088-C089 SALIVARY GLAND
ICD-Morpho 8430/3 Mucoepidermoid carcinoma
Atlas_Id 6282
Phylum Head and Neck: Salivary gland::Mucoepidermoid carcinoma
WHO/OMS Classification Head and Neck

Clinics and Pathology

Disease Mucoepidermoid carcinoma is the most common type of malignant salivary gland tumor, mostly located to the parotid gland; it is associated with a t(11;19)(q21;p13) translocation with expression of chimeric genes 5' CRTC1 - 3' MAML2 in about half of the cases, mainly associated with a highly or moderately differentiated histology and an excellent outcome.
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 NamePOU5F1 (POU class 5 homeobox 1)
Location 6p21.33
Protein 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 NameEWSR1 (Ewing sarcoma breakpoint region 1)
Location 22q12.2
Protein 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

Hybrid Gene
Description 5' EWSR1 - 3' POU5F1. EWSR1 exon 6 is fused in frame to POU5F1 exon 2.
Fusion Protein
Description Fusion of the N terminal transactivation domain of EWSR1 to the POU and the homeobox (DNA binding domain) of POU5F1.


Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene.
Behboudi A, Enlund F, Winnes M, Andren Y, Nordkvist A, Leivo I, Flaberg E, Szekely L, Makitie A, Grenman R, Mark J, Stenman G.
Genes Chromosomes Cancer. 2006 May;45(5):470-81.
PMID 16444749
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.
Moller E, Stenman G, Mandahl N, Hamberg H, Molne L, van den Oord JJ, Brosjo O, Mertens F, Panagopoulos I.
J Pathol. 2008 May;215(1):78-86.
PMID 18338330


This paper should be referenced as such :
Huret, JL
t(6;22)(p21;q12) in mucoepidermoid carcinoma of the salivary glands
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1086-1086.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes EWSR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;22)(p21;q12) EWSR1/POU5F1

External links

Mitelman database t(6;22)(p21;q12) [CaseList]     t(6;22)(p21;q12) [Transloc - MCList]   EWSR1/POU5F1 Fusion - MCList]
COSMIC[ EWSR1 ]   [ POU5F1 ]
arrayMap Topo ( C07,C8,C08) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionEWSR1 (22q12.2) POU5F1 (6p21.33)    [fusion1305] [fusion1306] [fusion322] [fusion323] [fusion324]
Mitelman databaseEWSR1/POU5F1[MCList]    EWSR1 (22q12.2) POU5F1 (6p21.33)   t(6;22)(p21;q12)
TICdbEWSR1/POU5F1    EWSR1 (22q12.2) POU5F1 (6p21.33)
Disease databaseHead and Neck: Salivary gland tumors: Mucoepidermoid carcinoma with t(6;22)(p21;q12) EWSR1/POU5F1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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