title: Rhabdoid Variant of Myoepithelial Carcinoma, with EWSR1 Rearrangement: Expanding the Spectrum of EWSR1-Rearranged Myoepithelial Tumors.
abstract: Myoepithelial and mixed tumors represent a heterogeneous group of neoplasms for which classification is incomplete and continues to evolve. Those arising in the soft tissues appear to represent subgroups that are genetically distinct from those that occur within salivary glands. We describe a case of soft tissue myoepithelial carcinoma with rhabdoid morphology, which presented as an enlarging neck mass in a 40 year old male, and in which EWSR1 rearrangement was demonstrated by fluorescence in situ hybridization. This neoplasm showed diffuse INI1 loss, making distinction from other INI1-negative rhabdoid tumors difficult. This expands the range of reported histologic features of EWSR1-rearranged myoepithelial neoplasms, and highlights the significant morphologic and immunohistochemical overlap between this and other INI1-negative malignant rhabdoid neoplasms.
authors.affiliation: Sarcoma Unit, Royal Marsden Hospital, London, UK, khin.thway@rmh.nhs.uk.
authors.forename: Khin
authors.initials: K
authors.lastname: Thway
authors.forename: Nick
authors.initials: N
authors.lastname: Bown
authors.forename: Aisha
authors.initials: A
authors.lastname: Miah
authors.forename: Rob
authors.initials: R
authors.lastname: Turner
authors.forename: Cyril
authors.initials: C
authors.lastname: Fisher
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000378:metabolism; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000378:metabolism; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000378:metabolism; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D008297:Male; D009208:Myoepithelioma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D009333:Neck / Q000473:pathology / Q000601:surgery; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000071796:SMARCB1 Protein; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D014157:Transcription Factors / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D002148:Calmodulin-Binding Proteins; D002868:Chromosomal Proteins, Non-Histone; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C500986:EWSR1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors