Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas.
Bone Neoplasms
/ secondary
DNA-Binding Proteins
/ genetics
Female
Humans
Liver Neoplasms
/ genetics
Lung Neoplasms
/ genetics
Middle Aged
Oncogene Proteins, Fusion
/ genetics
RNA-Binding Protein EWS
/ genetics
Rhabdomyosarcoma
/ classification
Skin Neoplasms
/ secondary
Transcription Factors
/ genetics
RNA sequencing
TFCP2
fusion gene
rhabdomyosarcoma
spindle cell
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
revised:
02
12
2021
received:
09
11
2021
accepted:
04
12
2021
pubmed:
9
12
2021
medline:
12
3
2022
entrez:
8
12
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
DNA-Binding Proteins
0
EWSR1 protein, human
0
Oncogene Proteins, Fusion
0
RNA-Binding Protein EWS
0
TFCP2 protein, human
0
Transcription Factors
0
UBP1 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
200-205Subventions
Organisme : Marie Curie
Pays : United Kingdom
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021 Wiley Periodicals LLC.
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