A novel fusion variant LSM14A :: NR4A3 in extraskeletal myxoid chondrosarcoma - Archive ouverte HAL
Article Dans Une Revue Genes, Chromosomes & Cancer Année : 2022

A novel fusion variant LSM14A :: NR4A3 in extraskeletal myxoid chondrosarcoma

Résumé

Abstract 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.

Domaines

Cancer
Fichier principal
Vignette du fichier
2023_Faron_GenesChromosomesCancer.pdf (775.07 Ko) Télécharger le fichier
Origine Publication financée par une institution
Licence

Dates et versions

hal-04500985 , version 1 (24-05-2024)

Licence

Identifiants

Citer

Carine Ngo, Benjamin Verret, Julien Vibert, Sophie Cotteret, Antonin Levy, et al.. A novel fusion variant LSM14A :: NR4A3 in extraskeletal myxoid chondrosarcoma. Genes, Chromosomes & Cancer, 2022, 62 (1), pp.52-56. ⟨10.1002/gcc.23090⟩. ⟨hal-04500985⟩
55 Consultations
12 Téléchargements

Altmetric

Partager

More