Intra-articular Extraskeletal EWSR1-Negative NR4A3-Positive Myxoid Chondrosarcoma
| Autor: | Rana Naous, Ola El-Zammar, Timothy A. Damron, Divakar N. Lal |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
musculoskeletal diseases Receptors Steroid Pathology medicine.medical_specialty medicine.medical_treatment Common gene Chondrosarcoma Chromosomal translocation Molecular Fingerprint Surgical Flaps Myxoid chondrosarcoma Intra articular medicine Humans Knee Orthopedics and Sports Medicine Receptors Thyroid Hormone business.industry Middle Aged musculoskeletal system medicine.disease Magnetic Resonance Imaging DNA-Binding Proteins Variant translocation Amputation Surgery RNA-Binding Protein EWS business Neoplasms Connective and Soft Tissue |
| Zdroj: | JBJS Case Connector. 10:e0614-e0614 |
| ISSN: | 2160-3251 |
| DOI: | 10.2106/jbjs.cc.19.00614 |
| Popis: | Case Extraskeletal myxoid chondrosarcomas (EMCs) are rare soft-tissue malignancies. Intra-articular occurrence is even more rare. To our knowledge, this case is one of only 2 reported intra-articular EMC cases of the knee free of local recurrence and/or amputation at follow-up. This case is also distinctive for being fluorescence in-situ hybridization-negative for the typical EMC-balanced translocation t(9;22) which fuses EWSR1 with NR4A3, harboring instead a variant translocation resulting in fusion of NR4A3 with a less common gene fusion partner. Conclusion This is a unique case of intra-articular EMC of the knee with a rare molecular fingerprint and an unusually positive outcome. |
| Databáze: | OpenAIRE |
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