Whole genome transcriptome analysis in a case of a neonatal soft tissue
sarcoma with YWHAE:NUTM2B fusion
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.