A novel fusion variant LSM14A::NR4A3 in extraskeletal myxoid chondrosarcoma.
LSM14A::NR4A3
extraskeletal myxoid chondrosarcoma
gene fusion
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
01 2023
01 2023
Historique:
revised:
02
08
2022
received:
17
06
2022
accepted:
03
08
2022
pubmed:
7
8
2022
medline:
16
11
2022
entrez:
6
8
2022
Statut:
ppublish
Résumé
Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue neoplasm of uncertain lineage characterized by the pathognomonic rearrangement of the NR4A3 gene, which in most cases is fused with EWSR1. Other NR4A3 fusion partners have been described, namely TAF15, FUS, TCF12, and TGF. Some studies suggest that EMCs with non-EWSR1 variant fusion are associated with high-grade morphology and worst clinical behavior compared to EWSR1::NR4A3 tumors, supporting the potential significance of particular fusion variant in EMC. We report a case of a 34-year-old male who presented with calf EMC and subsequently developed a slowly progressive metastatic disease 3 years after diagnosis. Whole-transcriptome analysis with total RNA sequencing enabled identification of a novel fusion transcript LSM14A::NR4A3, expanding the molecular spectrum of EMC.
Substances chimiques
Receptors, Thyroid Hormone
0
Receptors, Steroid
0
Oncogene Proteins, Fusion
0
NR4A3 protein, human
0
DNA-Binding Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
52-56Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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