关节内骨外 EWSR1 阴性 NR4A3 阳性黏液样软骨肉瘤：一例报告。
Intra-articular Extraskeletal EWSR1-Negative NR4A3-Positive Myxoid Chondrosarcoma: A Case Report.
机构信息
Department of Orthopedic Surgery, SUNY Upstate Medical University, Syracuse, New York.
Department of Pathology, SUNY Upstate Medical University, Syracuse, New York.
出版信息
JBJS Case Connect. 2020 Apr-Jun;10(2):e0614. doi: 10.2106/JBJS.CC.19.00614.
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.
病例
骨外黏液样软骨肉瘤（EMCs）是一种罕见的软组织恶性肿瘤。关节内发生则更为罕见。据我们所知，此病例是仅有的 2 例膝关节内无局部复发和/或随访时无需截肢的关节内 EMC 病例之一。该病例还具有独特之处，其荧光原位杂交结果为阴性，不具有典型的 EMC 平衡易位 t(9;22)，该易位将 EWSR1 与 NR4A3 融合，而是具有导致 NR4A3 与不太常见的基因融合伴侣融合的变体易位。
结论
这是一例膝关节内罕见的 EMC 病例，具有罕见的分子特征和异常良好的预后。
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