Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma

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dc.contributor.authorHofvander, Jakob
dc.contributor.authorTayebwa, Johnbosco
dc.contributor.authorNilsson, Jenny
dc.contributor.authorMagnusson, Linda
dc.contributor.authorBrosjo, Otte
dc.contributor.authorLarsson, Olle
dc.contributor.authorVult von Steyern, Fredrik
dc.contributor.authorMandahl, Nils
dc.contributor.authorFletcher, Christopher D.M.
dc.contributor.authorMertens, Fredrik
dc.date.accessioned2022-11-30T13:24:59Z
dc.date.available2022-11-30T13:24:59Z
dc.date.issued2015
dc.description.abstractUndifferentiated pleomorphic sarcoma (UPS) is defined as a sarcoma with cellular pleomorphism and no identifiable line of differentiation. It is typically a high-grade lesion with a metastatic rate of about one third. No tumor-specific rearrangement has been identified, and genetic markers that could be used for treatment stratification are lacking. We performed transcriptome sequencing (RNA-Seq) to search for novel gene fusions. Experimental design: RNA-Seq, FISH, and/or various PCR methodologies were used to search for gene fusions and rearrangements of the PRDM10 gene in 84 soft tissue sarcomas. Results: Using RNA-Seq, two cases of UPS were found to display novel gene fusions, both involving the transcription factor PRDM10 as the 30 partner and either MED12 or CITED2 as the 50 partner gene. Further screening of 82 soft tissue sarcomas for rearrangements of the PRDM10 locus revealed one more UPS with a MED12/PRDM10 fusion. None of these genes has been implicated in neoplasia-associated gene fusions before. Conclusions: Our results suggest that PRDM10 fusions are present in around 5% of UPS. Although the fusion-positive cases in our series showed the same nuclear pleomorphism and lack of differentiation as other UPS, it is noteworthy that all three were morphologically low grade and that none of the patients developed metastases. Thus, PRDM10 fusion-positive sarcomas may constitute a clinically important subset of UPS.en_US
dc.identifier.citationHofvander, J., Tayebwa, J., Nilsson, J., Magnusson, L., Brosjö, O., Larsson, O., ... & Mertens, F. (2015). Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic SarcomaPRDM10 Fusions in UPS. Clinical Cancer Research, 21(4), 864-869. doi: 10.1158/1078-0432.CCR-14-2399en_US
dc.identifier.other10.1158/1078-0432.CCR-14-2399
dc.identifier.urihttps://nru.uncst.go.ug/handle/123456789/5556
dc.language.isoenen_US
dc.publisherClinical Cancer Researchen_US
dc.subjectPRDM10 Gene Fusionsen_US
dc.subjectPleomorphic Sarcomaen_US
dc.titleRecurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcomaen_US
dc.typeArticleen_US
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