Myoepithelioma of bone with a novel FUS‐POU5F1 fusion gene. Issue 6 (31st October 2014)

• Record Type: Journal Article
• Authors: Puls, Florian; Arbajian, Elsa; Magnusson, Linda; Douis, Hassan; Kindblom, Lars‐Gunnar; Mertens, Fredrik
• Is Part Of: Histopathology. Volume 65:Issue 6(2014)
• Page Start: 917
• Page End: 922
• Publication Date: 2014-10-31
• Subjects: Histology, Pathological -- Periodicals; 611.018
• DOI: 10.1111/his.12517
• Languages: English
• ISSNs: 0309-0167

Abstract

<abstract abstract-type="main" id="his12517-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="his12517-sec-0001" sec-type="section"> <title>Aims</title> <p>Myoepithelial tumours of soft tissue are rare lesions with a broad morphological and clinical spectrum. Previous studies have found <italic>EWSR1</italic> rearrangements in approximately half of all cases and <italic>PBX1</italic>, <italic> ZNF44</italic> and <italic>POU5F1</italic> 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 <italic>EWSR1</italic> rearrangement for the presence of other fusion genes.</p> </sec> <sec id="his12517-sec-0002" sec-type="section"> <title>Methods and results</title> <p>G‐banding analysis, SNP‐array and fluorescence <italic>in situ</italic> hybridisation suggested rearrangement of the <italic>FUS</italic> and <italic>POU5F1</italic> genes. RT‐PCR confirmed a chimeric in‐frame transcript fusing <italic>FUS</italic> exon 5 to <italic>POU5F1</italic> exon 2. The clinical course after <italic>en bloc</italic> resection was without recurrence or metastasis over a period of 87 months.</p> </sec> <sec id="his12517-sec-0003" sec-type="section"> <title>Conclusion</title> <p>We report a novel <italic>FUS‐POU5F1</italic> fusion gene in an intraosseous myoepithelioma of the sacrum. This case highlights that <italic>FUS</italic> can replace <italic>EWSR1</italic> 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 <italic>EWSR1, </italic> also <italic>FUS</italic> needs to be considered as a potential fusion partner in the molecular work up of myoepithelial tumours.</p> </sec> </abstract>