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

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...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2023-01, Vol.62 (1), p.52-56
Main Authors: Ngo, Carine, Verret, Benjamin, Vibert, Julien, Cotteret, Sophie, Levy, Antonin, Pechoux, Cécile Le, Haddag‐Miliani, Leila, Honore, Charles, Faron, Matthieu, Quinquis, Fabien, Cesne, Axel Le, Scoazec, Jean‐Yves, Pierron, Gaëlle
Format: Article
Language:English
Subjects:
Adult
Cancer
Case reports
Chondrosarcoma
Chondrosarcoma - pathology
DNA-Binding Proteins
Extraskeletal myxoid chondrosarcoma
FLI-1 protein
gene fusion
Gene rearrangement
Humans
Life Sciences
LSM14A::NR4A3
Male
Metastases
Neoplasia
Oncogene Proteins, Fusion - genetics
Receptors, Steroid - genetics
Receptors, Thyroid Hormone - genetics
Soft Tissue Neoplasms - genetics
Transcriptomes
Tumors
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Summary: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.
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.23090