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NTRK fusions in ost...
NTRK fusions in osteosarcoma are rare and non-functional events
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- Ameline, Baptiste (författare)
- University Hospital Basel
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- Saba, Karim H. (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Kovac, Michal (författare)
- University Hospital Basel
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- Magnusson, Linda (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Witt, Olaf (författare)
- University Hospital Heidelberg
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- Bielack, Stefan (författare)
- Klinikum Stuttgart Olgahospital
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- Nathrath, Michaela (författare)
- Technical University of Munich
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- Nord, Karolin H. (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Baumhoer, Daniel (författare)
- University Hospital Basel
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(creator_code:org_t)
- 2020-02-05
- 2020
- Engelska 6 s.
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Ingår i: Journal of Pathology: Clinical Research. - : Wiley. - 2056-4538. ; 6:2, s. 107-112
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Neurotrophic tyrosine receptor kinase (NTRK) fusions are promising molecular targets that have been described in a broad range of malignant tumours. Fusions commonly lead to the expression of chimeric proteins with constitutive tyrosine kinase activation that drives tumorigenesis. Despite a low prevalence among most solid tumours (<1%), the first encouraging results with pan-NTRK tyrosine kinase inhibitors (TKIs) such as larotrectinib or entrectinib stimulated the search for eligible patients. Here, we report the first three cases of osteosarcoma harbouring NTRK fusions, among 113 patients sequenced. It is also the first report on NTRK fusions within a tumour type characterised by highly rearranged genomes and abundant passenger mutations. Whereas the presence of NTRK gene fusions in many tumours is considered to be one of the main driver events for tumour progression, the three chimeric transcripts described here appear non-functional and likely represent randomly occurring passenger alterations. Particularly in tumours with complex karyotypes, it may therefore be advisable to specifically investigate the fusion transcripts for functional impact before considering targeted treatment approaches using pan-NTRK TKIs.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- NTRK
- osteosarcoma
- tyrosine kinase inhibitors
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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