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Whole genome transcriptome analysis in a case of a neonatal soft tissue sarcoma with YWHAE:NUTM2B fusion
  • +5
  • Arielle Locke,
  • Jefferson Terry,
  • Yaoqing Shen,
  • Douglas Courtemanche,
  • Daniel G. Rosenbaum,
  • Shahrad Rassekh,
  • Rebecca Deyell,
  • Sylvia Cheng
Arielle Locke
University of Galway
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Jefferson Terry
British Columbia Women's Hospital and Health Centre Women's Health Research Institute
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Yaoqing Shen
British Columbia Cancer Agency
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Douglas Courtemanche
The University of British Columbia
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Daniel G. Rosenbaum
BC Children's Hospital
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Shahrad Rassekh
BC Children's Hospital
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Rebecca Deyell
BC Children's Hospital
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Sylvia Cheng
BC Children's Hospital

Corresponding Author:[email protected]

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Abstract

Soft tissue sarcomas in neonates are rare and heterogeneous tumors. We report an aggressive neonatal undifferentiated round cell sarcoma with a YWHAE:NUTM2B fusion. The tumor was identified antenatally and the neonate underwent surgical resection at four days of age. Whole-genome and transcriptome sequencing of tumour and germline was undertaken to provide molecular characterization and elucidate possible novel therapies. In addition to molecular characterization of a YWHAE:NUTM2B fusion, RNA expression outliers were described. Targeted therapy was not pursued due to rapid clinical decline. Understanding the genomic profile of rare tumors remains important in the development of novel therapeutic strategies.