Soft Tissues: Myoepithelial carcinoma with t(19;22)(q13;q12) EWSR1/ZNF444

2010-02-01   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 40-year-old female patient. After surgical removal, recurrences occured during 2 years, and metastases appeared 3 years later. The patient finally died 9.5 years after initial diagnosis (Brandal et al., 2009).

Cytogenetics

Cytogenetics morphological

The t(19;22)(q13;q12) was found within a complex karyotype.

Genes Involved and Proteins

Gene name

ZNF444 (zinc finger protein 444)

Location

19q13.43

Protein description

Possess a SCAN domain and 4 C2H2-type zinc fingers. 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 ZNF444; fuses EWSR1 exon 8 to the very near end of ZNF444 (at nucleotide 967, while the full transcript of ZNF444 is 984 nt long!).

Bibliography

Pubmed IDLast YearTitleAuthors
197606022009t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma.Brandal P et al
180430352007Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases.Gleason BC et al
129608022003Myoepithelial tumors of soft tissue: a clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters.Hornick JL et al

External Links

Citation

Jean-Loup Huret

Soft Tissues: Myoepithelial carcinoma with t(19;22)(q13;q12) EWSR1/ZNF444

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6287/soft-tissues-myoepithelial-carcinoma-with-t(19;22)(q13;q12)-ewsr1-znf444