| 11. |
- Mertens, Fredrik, et al.
(författare)
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Evolving techniques for gene fusion detection in soft tissue tumours.
- 2014
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Ingår i: Histopathology. - : Wiley. - 0309-0167. ; 64:1, s. 151-162
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Forskningsöversikt (refereegranskat)abstract
- Chromosomal rearrangements resulting in the fusion of coding parts from two genes or in the exchange of regulatory sequences are present in approximately 20% of all human neoplasms. More than 1000 such gene fusions have now been described, with close to 100 of them in soft tissue tumours. Although little is still known about the functional outcome of many of these gene fusions, it is well established that most of them have a major impact on tumorigenesis. Furthermore, the strong association between type of gene fusion and morphological subtype makes them highly useful diagnostic markers. Until recently, the vast majority of gene fusions were identified through molecular cytogenetic characterization of rearrangements detected at chromosome banding analysis, followed by use of the reverse transcriptase-polymerase chain reaction (RT-PCR) and Sanger sequencing. With the advent of next-generation sequencing (NGS) technologies, notably of whole transcriptomes or all poly-A(+) mRNA molecules, the possibility of detecting new gene fusions has increased dramatically. Already, a large number of novel gene fusions have been identified through NGS approaches and it can be predicted that these technologies soon will become standard diagnostic clinical tools.
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| 12. |
- 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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| 13. |
- Vivero, Marina, et al.
(författare)
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GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling
- 2014
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Ingår i: Histopathology. - : Wiley. - 0309-0167. ; 65:1, s. 71-80
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Tidskriftsartikel (refereegranskat)abstract
- Aims: The NAB2-STAT6 fusion was recently identified as a consistent finding in solitary fibrous tumour (SFT), resulting in nuclear expression of the C-terminal part of STAT6. Gene expression studies of SFT revealed high expression of the GRIA2 gene. The aim of this study was to examine GRIA2 expression in SFTs and other soft tissue tumours to evaluate its diagnostic utility. Methods and results: Immunohistochemistry was performed on 375 soft tissue tumours. In total, 84 of 105 (80%) SFTs, including 86% of malignant SFTs and 100% of dedifferentiated SFTs, were positive for GRIA2. One SFT known to harbour the NAB2-STAT6 fusion but that was negative for STAT6 by immunohistochemistry was positive for GRIA2. It is of note that 93% of SFTs received in the last 3 years were positive for GRIA2, as compared with only 70% of older cases. The only other tumours that expressed GRIA2 were 15 of 20 (75%) cases of dermatofibrosarcoma protuberans (DFSP), four of nine (44%) myoepitheliomas, one synovial sarcoma (<1% of cells), and one schwannoma. Conclusions: GRIA2 is a useful marker for distinguishing SFT from most mimics. Among other CD34positive tumours, GRIA2 is also expressed in DFSP; however, clinical and histological features aid in their distinction. GRIA2 shows a limited distribution in other soft tissue tumours.
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| 14. |
- Hesson, Jenny C., 1980-, et al.
(författare)
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The arbovirus vector Culex torrentium is more prevalent than Culex pipiens in northern and central Europe
- 2014
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Ingår i: Medical and Veterinary Entomology. - : Wiley. - 0269-283X .- 1365-2915. ; 28:2, s. 179-186
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Tidskriftsartikel (refereegranskat)abstract
- Two species of arbovirus vector, Culex torrentium and Culex pipiens (Diptera: Culicidae), occur in several European countries, but difficulties in their accurate identification and discrimination have hampered both detailed and large-scale distribution and abundance studies. Using a molecular identification method, we identified to species 2559 larvae of Cx. pipiens/torrentium collected from 138 sites in 13 European countries ranging from Scandinavia to the Mediterranean coast. In addition, samples of 1712 males of Cx. pipiens/torrentium collected at several sites in the Czech Republic were identified to species based on the morphology of their hypopygia. We found that the two species occur together in large areas of Europe, and that Cx. torrentium dominates in northern Europe and Cx. pipiens dominates south of the Alps. The transition in dominance occurs in central Europe, where both species are roughly equally common. There was a strong correlation between the length of the growing season at different sites and occurrences of the two species. As the growing season increases, the proportion and detection of Cx. torrentium decrease, whereas those of Cx. pipiens increase. The present findings have important consequences for the interpretation of the results of studies on major enzootic and link-vectors of mosquito-borne bird-associated viruses (i.e. Sindbis, West Nile and Usutu viruses), especially in central Europe and Scandinavia.
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