Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Written2010-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

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 t(19;22)(q13;q12) in myoepithelial carcinoma

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

Mitelman database t(19;22)(q13;q12) EWSR1/ZNF444 [Case List]    t(19;22)(q13;q12) EWSR1/ZNF444 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionEWSR1 (22q12.2) ZNF444 (19q13.43)    [fusion1342] [fusion1343] [fusion1345]
Mitelman databaseEWSR1/ZNF444[MCList]    EWSR1 (22q12.2) ZNF444 (19q13.43)   t(19;22)(q13;q12)
TICdbEWSR1/ZNF444    EWSR1 (22q12.2) ZNF444 (19q13.43)
 
Disease databaseSoft Tissues: Myoepithelial carcinoma with t(19;22)(q13;q12) EWSR1/ZNF444
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Apr 26 15:55:57 CEST 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.