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Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene

Puls, Florian; Arbajian, Elsa LU ; Magnusson, Linda LU ; Douis, Hassan; Kindblom, Lars-Gunnar and Mertens, Fredrik LU (2014) In Histopathology 65(6). p.917-922
Abstract
AimsMyoepithelial 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. Methods and resultsG-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... (More)
AimsMyoepithelial 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. Methods and resultsG-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 87months. ConclusionWe 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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
fluorescence in situ hybridisation, myoepithelial tumour, myoepithelioma, reverse transcriptase polymerase chain reaction
in
Histopathology
volume
65
issue
6
pages
917 - 922
publisher
Wiley-Blackwell
external identifiers
  • wos:000345574400019
  • scopus:84916617897
ISSN
0309-0167
DOI
10.1111/his.12517
language
English
LU publication?
yes
id
2d8da289-fdfe-4931-a1ea-cd934e8476af (old id 4965919)
date added to LUP
2015-02-03 07:08:10
date last changed
2017-08-13 03:15:03
@article{2d8da289-fdfe-4931-a1ea-cd934e8476af,
  abstract     = {AimsMyoepithelial 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. Methods and resultsG-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 87months. ConclusionWe 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.},
  author       = {Puls, Florian and Arbajian, Elsa and Magnusson, Linda and Douis, Hassan and Kindblom, Lars-Gunnar and Mertens, Fredrik},
  issn         = {0309-0167},
  keyword      = {fluorescence in situ hybridisation,myoepithelial tumour,myoepithelioma,reverse transcriptase polymerase chain reaction},
  language     = {eng},
  number       = {6},
  pages        = {917--922},
  publisher    = {Wiley-Blackwell},
  series       = {Histopathology},
  title        = {Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene},
  url          = {http://dx.doi.org/10.1111/his.12517},
  volume       = {65},
  year         = {2014},
}