title: Heterogeneous genetic profiles in soft tissue myoepitheliomas.
abstract: Myoepithelioma, mixed tumor and parachordoma are uncommon soft tissue tumors thought to represent morphological variants of a single tumor type. The genetic basis of these neoplasms is poorly understood. However, they morphologically resemble mixed tumor of the salivary glands (also known as pleomorphic adenoma), a tumor characterized by deregulated expression of PLAG1 or HMGA2. To evaluate a possible genetic relationship between these soft tissue and salivary gland tumors, PLAG1 expression levels and the genomic status of PLAG1 and HMGA2 were investigated in five soft tissue myoepitheliomas and one pleomorphic adenoma. In addition, all tumors were cytogenetically investigated and whole genome DNA copy number imbalances were studied in five of them. The genetic profiles were heterogeneous and the only aberration common to all soft tissue myoepitheliomas was a minimally deleted region of 3.55 Mb in chromosome band 19p13. Recurrent deletion of CDKN2A suggests that inactivation of this tumor suppressor gene is pathogenetically important in a subset. Furthermore, PLAG1 rearrangement was found in a soft tissue tumor from a patient previously treated for a salivary pleomorphic adenoma, indicating either metastasis of the salivary gland lesion or that some soft tissue tumors develop through the same mechanisms as their salivary gland counterparts.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. Karolin.Hansen_Hallor@med.lu.se
authors.forename: Karolin H
authors.initials: KH
authors.lastname: Hallor
authors.forename: Manuel R
authors.initials: MR
authors.lastname: Teixeira
authors.forename: Christopher D M
authors.initials: CD
authors.lastname: Fletcher
authors.forename: Susana
authors.initials: S
authors.lastname: Bizarro
authors.forename: Johan
authors.initials: J
authors.lastname: Staaf
authors.forename: Henryk A
authors.initials: HA
authors.lastname: Domanski
authors.forename: Fredrik Vult
authors.initials: FV
authors.lastname: von Steyern
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Nils
authors.initials: N
authors.lastname: Mandahl
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
mesh_terms: D008949:Adenoma, Pleomorphic / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D002648:Child; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D015321:Gene Rearrangement; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009208:Myoepithelioma / Q000235:genetics* / Q000556:secondary / Q000601:surgery; D010307:Parotid Neoplasms / Q000235:genetics / Q000473:pathology; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: D002148:Calmodulin-Binding Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004268:DNA-Binding Proteins; C500986:EWSR1 protein, human; D025743:HMGA2 Protein; C104382:PLAG1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins