title: Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene.
abstract: OBJECTIVE
  Myoepithelial tumours of soft tissue are rare lesions with a broad morphological and clinical spectrum. Previous studies have found EWSR1 rearrangements in approximately half of all cases and PBX1, ZNF44 and POU5F1 have been identified as recurrent fusion partners. In bone, only a small number of myoepithelial tumours have been described. We investigated an intraosseous myoepithelioma of the sacrum in a 54-year-old man without EWSR1 rearrangement for the presence of other fusion genes.
  
  
  RESULTS
  G-banding analysis, SNP-array and fluorescence in situ hybridisation suggested rearrangement of the FUS and POU5F1 genes. RT-PCR confirmed a chimeric in-frame transcript fusing FUS exon 5 to POU5F1 exon 2. The clinical course after en bloc resection was without recurrence or metastasis over a period of 87 months.
  
  
  CONCLUSIONS
  We report a novel FUS-POU5F1 fusion gene in an intraosseous myoepithelioma of the sacrum. This case highlights that FUS can replace EWSR1 as the N-terminal transactivator in oncogenic fusion genes in myoepithelial tumours, similar to that which has previously been demonstrated in other tumour entities. Thus, in addition to EWSR1, also FUS needs to be considered as a potential fusion partner in the molecular work up of myoepithelial tumours.
authors: Department of Musculoskeletal Pathology, Royal Orthopaedic Hospital NHS Foundation Trust, Birmingham, UK.
authors: Florian
authors: F
authors: Puls
authors: Elsa
authors: E
authors: Arbajian
authors: Linda
authors: L
authors: Magnusson
authors: Hassan
authors: H
authors: Douis
authors: Lars-Gunnar
authors: LG
authors: Kindblom
authors: Fredrik
authors: F
authors: Mertens
mesh_terms: D001859:Bone Neoplasms / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009208:Myoepithelioma / Q000235:genetics*; D050814:Octamer Transcription Factor-3 / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D050814:Octamer Transcription Factor-3; D015514:Oncogene Proteins, Fusion; C494173:POU5F1 protein, human; D034702:RNA-Binding Protein FUS
keywords: fluorescence in situ hybridisation; myoepithelial tumour; myoepithelioma; reverse transcriptase polymerase chain reaction