| Written | 2010-02 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE |
| ICD-Morpho | 9373/1 8940/1 8982/1 Parachordoma Mixed tumour Myoepithelioma |
| Atlas_Id | 6287 |
| Phylum | Soft Tissues::Myoepithelioma |
| Clinics and Pathology |
| Disease | Myoepithelioma tumours of soft tissue cover a wide range of tumours of various behaviour. While most are of intermediate aggressivity, some metastasize. There is no sex ratio predominance. Mean age at diagnosis is 38 years; with a range of 3-83 years. Of a hundred of cases reviewed by Hornick and Fletcher (2003), 60% were benign and classified as myoepitheliomas or mixed tumors, and 40% were classified as myoepithelial carcinomas or malignant mixed tumours. Amongst cases with benign or low-grade cytology, with a mean follow-up of 3 years, 20% recurred locally and none metastasized. Amongst cytologically malignant cases, with a mean follow-up of 4 years, 40% recurred locally, 1/3 metastasized, and 4 out of 31 patients died. Tumours are positive for epithelial markers, and for S100 or GFAP, or myogenic markers (Gleason and Fletcher, 2007). |
| 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 |
| Location | 19q13 |
| Protein | Possess a SCAN domain and 4 C2H2-type zinc fingers. Transcription factor |
| Gene Name | EWSR1 |
| Location | 22q12 |
| 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' 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!). |
| Fusion Protein | |
| 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). |
| Bibliography |
| t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma. |
| Brandal P, Panagopoulos I, Bjerkehagen B, Heim S. |
| Genes Chromosomes Cancer. 2009 Dec;48(12):1051-6. |
| PMID 19760602 |
| Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. |
| Gleason BC, Fletcher CD. |
| Am J Surg Pathol. 2007 Dec;31(12):1813-24. |
| PMID 18043035 |
| Myoepithelial tumors of soft tissue: a clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters. |
| Hornick JL, Fletcher CD. |
| Am J Surg Pathol. 2003 Sep;27(9):1183-96. |
| PMID 12960802 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(19;22)(q13;q12) in myoepithelial carcinoma |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(12):1179-1180. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/t1922q13q12MyoCarcID6287.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | EWSR1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(19;22)(q13;q12) EWSR1/ZNF444 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:25:18 CEST 2017 |
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