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- Puls, Florian, et al.
(författare)
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Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene
- 2014
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Ingår i: Histopathology. - : Wiley. - 0309-0167. ; 65:6, s. 917-922
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Tidskriftsartikel (refereegranskat)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.
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| 2. |
- Puls, Florian, et al.
(författare)
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Non-fibrosing sclerosing epithelioid fibrosarcoma: An unusual variant.
- 2015
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Ingår i: Histopathology. - : Wiley. - 0309-0167.
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Sclerosing epithelioid fibrosarcoma (SEF), first described in 1995, is a rare aggressive sarcoma morphologically defined by "epithelioid fibroblasts arranged in distinct cords and nests in a densely sclerotic, hyalinised stroma". SEF can mimic metastatic carcinoma within desmoplastic stroma, lymphoma and other mesenchymal neoplasms such as myoepithelioma, making it difficult to diagnose. In a subset of cases there is morphological overlap between SEF and low grade fibromyxoid sarcoma (LGFMS), a low grade fibroblastic sarcoma. Progression of LGFMS to SEF in single cases is well documented. Recent studies detected EWSR1-CREB3L1 fusion transcripts in a high proportion of SEF. This article is protected by copyright. All rights reserved.
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