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Case Reports
. 2022 Apr;61(4):200-205.
doi: 10.1002/gcc.23019. Epub 2021 Dec 14.

Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas

Sophie El Zein  1 , Lounes Djeroudi  1 , Stéphanie Reynaud  2 , Delphine Guillemot  2 , Julien Masliah-Planchon  2 , Eléonore Frouin  3 , Nayla Nicolas  4 , François Le Loarer  5   6   7 , Catherine Daniel  8 , Olivier Delattre  2   9 , Gaëlle Pierron  2 , Sarah Watson  8   9
Affiliations
Case Reports

Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas

Sophie El Zein et al. Genes Chromosomes Cancer. 2022 Apr.

Erratum in

  • Erratum.
    [No authors listed] [No authors listed] Genes Chromosomes Cancer. 2022 Aug;61(8):518. doi: 10.1002/gcc.23068. Epub 2022 May 31. Genes Chromosomes Cancer. 2022. PMID: 35638293 No abstract available.

Abstract

Over the last decade, the development of next-generation sequencing techniques has led to the molecular dismantlement of adult and pediatric sarcoma, with the identification of multiple gene fusions associated with specific subtypes and currently integrated into diagnostic classifications. In this report, we describe and discuss the identification of a novel EWSR1-UBP1 gene fusion in an adult patient presenting with multi-metastatic sarcoma. Extensive pathological, transcriptomic, and genomic characterization of this tumor in comparison with a cohort of different subtypes of pediatric and adult sarcoma revealed that this fusion represents a novel variant of spindle cell rhabdomyosarcoma with features of TFCP2-rearranged subfamily.

Keywords: RNA sequencing; TFCP2; fusion gene; rhabdomyosarcoma; spindle cell.

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References

REFERENCES

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