Soft Tissues: Myoepithelial carcinoma with t(19;22)(q13;q12) EWSR1/ZNF444
2010-02-01 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 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!).
Description
Truncated EWSR1 with 6 amino acids added from ZNF444. This does not fit with the usual model of carcinogenesis found with other EWSR1 translocations, were there is fusion of the N terminal transactivation domain of EWSR1 to the DNA binding domain of the partner (e.g. FLI1).
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 26645726 | 2016 | Thoracic Myoepithelial Tumors: A Pathologic and Molecular Study of 8 Cases With Review of the Literature. | 52 |
| 20815032 | 2010 | EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene. | 23 |
| 19760602 | 2009 | t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma. | 0 |
| 25693574 | 2015 | Soft tissue myoepithelial carcinoma with rhabdoid-like features and EWSR1 rearrangement: Fine needle aspiration cytology with histologic correlation. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 19760602 | 2009 | t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma. | Brandal P et al |
| 18043035 | 2007 | Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. | Gleason BC et al |
| 12960802 | 2003 | Myoepithelial tumors of soft tissue: a clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters. | Hornick JL et al |
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
