title: t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma.
abstract: Myoepithelial neoplasms of soft tissue have only recently been acknowledged as a separate diagnostic entity. To know based on histological appearance whether these tumors are benign or malignant is often difficult, and their tumorigenic mechanisms remain poorly understood. We report a myoepithelial carcinoma with an aberrant near-diploid karyotype, 43 approximately 47,XX,add(1)(p34)x2,add(3)(q27)x2,del(12)(q22),+add(18)(p11)x2,del(22)(q11),+r, found in cells cultured from a lung metastasis. The deletion in 22q led us to search by molecular cytogenetic means for possible EWSR1 rearrangements, and eventually a novel chimeric gene consisting of the 5'-end of EWSR1 (22q12) and the 3'-end of ZNF444 (19q13) was found. How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors.
authors.affiliation: Department of Oncology, Division of Cancer Medicine and Radiotherapy, The Norwegian Radium Hospital, Oslo University Hospital, Montebello, Oslo, Norway. petter.brandal@klinmed.uio.no
authors.forename: Petter
authors.initials: P
authors.lastname: Brandal
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Bodil
authors.initials: B
authors.lastname: Bjerkehagen
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
mesh_terms: D000328:Adult; D002148:Calmodulin-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D051741:Kruppel-Like Transcription Factors / Q000235:genetics* / Q000378:metabolism; D008175:Lung Neoplasms / Q000235:genetics / Q000556:secondary; D009208:Myoepithelioma / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D051741:Kruppel-Like Transcription Factors; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins; C431793:ZNF71 protein, human