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extraskeletal myxoid chondrosarcoma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

extraskeletal myxoid chondrosarcoma

MONDO:0012825

Also known as:extraosseous chondrosarcomaextraskeletal chondrosarcomamyxoid extraosseous chondrosarcoma

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Overview

A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.

GeneticsMultifactorial · NR4A3 (chr 9)

Clinical Trials3 registered

Clinical Presentation

Features include: Chondrosarcoma.

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NR4A3 encodes nuclear receptor subfamily 4 group A member 3 (626 aa). Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Highest expression in Artery Tibial (41.6 TPM) and Adipose Visceral Omentum (35.6 TPM).

Extraskeletal myxoid chondrosarcoma is associated with mutations in the NR4A3 gene on chromosome 9.

The NR4A3 protein participates in NR4A3 gene expression is stimulated by RUNX1:CBFB, RUNX1:CBFB:NR4A3 gene, and RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function pathways.

NR4A3 is classified as a druggable target (Clinically Actionable, Druggable Genome, Nuclear Hormone Receptor, Transcription Factor, Transcription Factor Complex, and Transporter categories) with score 3.2.

Diagnosis

Genetic testing for NR4A3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for extraskeletal myxoid chondrosarcoma has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (Rare).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered. Interventions under study include procedural interventions, drug therapy, other interventions, and biologic therapy. Pipeline includes 2 PHASE2, 1 NA. Research is primarily sponsored by academic and government institutions.

32 publications have been identified in PubMed for extraskeletal myxoid chondrosarcoma. Research spans Case Report / Case Series (53%), Diagnostic / Biomarker (19%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	17

Data assembled from 7 of 12 sources · Last updated Sep 17, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612237

Orphanet

European rare disease database

Orphanet:209916

GARD

Genetic and Rare Diseases Info Center

GARD:17105

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for NR4A3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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extraskeletal myxoid chondrosarcoma

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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