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Transcriptomic definition of molecular subgroups of small round cell sarcomas

Abstract : Sarcoma represents a highly heterogeneous group of tumours. We report here the first unbiased and systematic search for gene fusions combined with unsupervised expression analysis of a series of 184 small round cell sarcomas. Fusion genes were detected in 59% of samples, with half of them being observed recurrently. We identified biologically homogeneous groups of tumours such as the CIC-fused (to DUX4, FOXO4 or NUTM1) and BCOR-rearranged (BCOR-CCNB3, BCOR-MAML3, ZC3H7B-BCOR, and BCOR internal duplication) tumour groups. VGLL2-fused tumours represented a more biologically and pathologically heterogeneous group. This study also refined the characteristics of some entities such as EWSR1-PATZ1 spindle cell sarcoma or FUS-NFATC2 bone tumours that are different from EWSR1-NFATC2 tumours and transcriptionally resemble CIC-fused tumour entities. We also describe a completely novel group of epithelioid and spindle-cell rhabdomyosarcomas characterized by EWSR1- or FUS-TFCP2 fusions. Finally, expression data identified some potentially new therapeutic targets or pathways.
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Submitted on : Wednesday, January 15, 2020 - 11:17:05 AM
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Sarah Watson, Virginie Perrin, Delphine Guillemot, Stéphanie Reynaud, Jean-Michel Coindre, et al.. Transcriptomic definition of molecular subgroups of small round cell sarcomas. The Journal of pathology and bacteriology, John Wiley & Sons, 2018, 245 (1), pp.29-40. ⟨10.1002/path.5053⟩. ⟨inserm-02440510⟩



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