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

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

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Neoplasms / secondary
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Liver Neoplasms / genetics
  • Liver Neoplasms / secondary*
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • RNA-Binding Protein EWS / genetics*
  • Rhabdomyosarcoma / classification
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Rhabdomyosarcoma / secondary
  • Skin Neoplasms / secondary
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • EWSR1 protein, human
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein EWS
  • TFCP2 protein, human
  • Transcription Factors
  • UBP1 protein, human