Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas.
Genes Chromosomes Cancer
; 61(4): 200-205, 2022 04.
Article
in En
| MEDLINE
| ID: mdl-34877752
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rhabdomyosarcoma
/
Transcription Factors
/
Oncogene Proteins, Fusion
/
RNA-Binding Protein EWS
/
DNA-Binding Proteins
/
Liver Neoplasms
/
Lung Neoplasms
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Genes Chromosomes Cancer
Journal subject:
BIOLOGIA MOLECULAR
/
NEOPLASIAS
Year:
2022
Document type:
Article
Affiliation country:
Francia