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

Autor: Arielle Locke, Jefferson Terry, Yaoqing Shen, Douglas Courtemanche, Daniel G. Rosenbaum, Shahrad Rassekh, Rebecca Deyell, Sylvia Cheng
Rok vydání: 2023
Předmět:
Zdroj: Pediatric Blood & Cancer. 70
ISSN: 1545-5017
1545-5009
DOI: 10.1002/pbc.30310
Popis: 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.
Databáze: OpenAIRE
Externí odkaz: