| 121. |
- 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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| 122. |
- Wetterskog, Daniel, 1978, et al.
(författare)
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Mutation profiling of adenoid cystic carcinomas from multiple anatomical sites identifies mutations in the RAS pathway, but no KIT mutations
- 2013
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Ingår i: Histopathology. - : Wiley. - 0309-0167. ; 62:4, s. 543-550
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Tidskriftsartikel (refereegranskat)abstract
- Aims The majority of adenoid cystic carcinomas (AdCCs), regardless of anatomical site, harbour the MYB–NFIB fusion gene. The aim of this study was to characterize the repertoire of somatic genetic events affecting known cancer genes in AdCCs. Methods and results DNA was extracted from 13 microdissected breast AdCCs, and subjected to a mutation survey using the Sequenom OncoCarta Panel v1.0. Genes found to be mutated in any of the breast AdCCs and genes related to the same canonical molecular pathways, as well as KIT, a proto-oncogene whose protein product is expressed in AdCCs, were sequenced in an additional 68 AdCCs from various anatomical sites by Sanger sequencing. Using the Sequenom MassARRAY platform and Sanger sequencing, mutations in BRAF and HRAS were identified in three and one cases, respectively (breast, and head and neck). KIT, which has previously been reported to be mutated in AdCCs, was also investigated, but no mutations were identified. Conclusions Our results demonstrate that mutations in genes pertaining to the canonical RAS pathway are found in a minority of AdCCs, and that activating KIT mutations are either absent or remarkably rare in these cancers, and unlikely to constitute a driver and therapeutic target for patients with AdCC.
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| 123. |
- 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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