Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma.

Jakob Hofvander, Johnbosco Tayebwa, Jenny Nilsson, Linda Magnusson, Otte Brosjö, Olle L Larsson, Fredrik Vult von Steyern, Nils Mandahl, Christopher Fletcher, Fredrik Mertens

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

38 Citeringar (SciVal)


Purpose: Undifferentiated 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 1/3. 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, fluorescence in situ hybridization, 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 3'-partner and either MED12 or CITED2 as the 5'-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.
Sidor (från-till)864-869
TidskriftClinical Cancer Research
StatusPublished - 2015

Ämnesklassifikation (UKÄ)

  • Cancer och onkologi


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