Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Myxoid Chondosarcoma, Extraskeletal

Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_5425-1


Extraskeletal myxoid chondrosarcoma is defined as a malignant mesenchymal neoplasm of uncertain differentiation, displaying abundant myxoid matrix, a lobulated architecture and cords and strands of uniform cells, characterized by NR4A3 gene rearrangements. The term “chondrosarcoma” was originally chosen based on the positivity for S100, the resemblance to chondroblasts at electron microscopy, and on focal cartilage formation. The latter is however extremely rare, as is the expression of cartilaginous differentiation markers, and it is now generally accepted that the term “chondrosarcoma” in extraskeletal myxoid chondrosarcoma is a misnomer. Therefore, since the 2002 WHO classification, the tumor is classified in the group of “of uncertain differentiation.” With emerging genetics, “NR4A3- rearranged myxoid sarcoma” might be a more appropriate term.

Clinical Features

  • Incidence

    Extraskeletal myxoid chondrosarcoma is rare and represents <1% of all soft tissue sarcomas.

  • Age


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References and Further Reading

  1. Agaram, N. P., Zhang, L., Sung, Y. S., Singer, S., & Antonescu, C. R. (2014). Extraskeletal myxoid chondrosarcoma with non-EWSR1-NR4A3 variant fusions correlate with rhabdoid phenotype and high-grade morphology. Human Pathology, 45(5), 1084–1091.CrossRefGoogle Scholar
  2. Attwooll, C., Tariq, M., Harris, M., Coyne, J. D., Telford, N., & Varley, J. M. (1999). Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. Oncogene, 18(52), 7599–7601.CrossRefGoogle Scholar
  3. Brenca, M., Stacchiotti, S., Fassetta, K., et al. (2019). NR4A3 fusion proteins trigger an axon guidance switch that marks the difference between EWSR1 and TAF15 translocated extraskeletal myxoid chondrosarcomas. The Journal of Pathology, 249(1), 90–101.CrossRefGoogle Scholar
  4. Clark, J., Benjamin, H., Gill, S., et al. (1996). Fusion of the EWS gene to CHN, a member of the steroid thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene, 12, 229–235.PubMedGoogle Scholar
  5. Finos, L., Righi, A., Frisoni, T., et al. (2017). Primary extraskeletal myxoid chondrosarcoma of bone: Report of three cases and review of the literature. Pathology, Research and Practice, 213(5), 461–466.CrossRefGoogle Scholar
  6. Kawaguchi, S., Wada, T., Nagoya, S., et al. (2003). Extraskeletal myxoid chondrosarcoma: A multi-institutional study of 42 cases in Japan. Cancer, 97(5), 1285–1292.CrossRefGoogle Scholar
  7. Kohashi, K., Oda, Y., Yamamoto, H., et al. (2008). SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: A special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. The American Journal of Surgical Pathology, 32(8), 1168–1174.CrossRefGoogle Scholar
  8. Meis-Kindblom, J. M., Bergh, P., Gunterberg, B., & Kindblom, L. G. (1999). Extraskeletal myxoid chondrosarcoma: A reappraisal of its morphologic spectrum and prognostic factors based on 117 cases. The American Journal of Surgical Pathology, 23(6), 636–650.CrossRefGoogle Scholar
  9. Panagopoulos, I., Mertens, F., Isaksson, M., et al. (2002). Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. Genes, Chromosomes & Cancer, 35(4), 340–352.CrossRefGoogle Scholar
  10. Patel, S. R., Burgess, M. A., Papadopoulos, N. E., Linke, K. A., & Benjamin, R. S. (1995). Extraskeletal myxoid chondrosarcoma. Long-term experience with chemotherapy. American Journal of Clinical Oncology, 18(2), 161–163.CrossRefGoogle Scholar
  11. Sciot, R., Dal Cin, P., Fletcher, C., et al. (1995). T(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: Evaluation of three cases. Modern Pathology, 8(7), 765–768.PubMedGoogle Scholar
  12. Sjogren, H., Meis-Kindblom, J., Kindblom, L. G., Aman, P., & Stenman, G. (1999). Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. Cancer Research, 59(20), 5064–5067.PubMedGoogle Scholar
  13. Sjogren, H., Meis-Kindblom, J. M., Orndal, C., et al. (2003). Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma-cytogenetic, molecular genetic, and cDNA microarray analysis. American Journal of Pathology, 162(3), 781–792.CrossRefGoogle Scholar
  14. Stacchiotti, S., Ferrari, S., Redondo, A., et al. (2019). Pazopanib for treatment of advanced extraskeletal myxoid chondrosarcoma: A multicentre, single-arm, phase 2 trial. The Lancet Oncology, 20, 1252–1262.CrossRefGoogle Scholar
  15. Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., & Kindblom, L.-G. (1995). Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma. International Journal of Cancer, 62, 398–402.CrossRefGoogle Scholar

Authors and Affiliations

  1. 1.Department of PathologyLUMCLeidenThe Netherlands