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Extraskeletal myxoid chondrosarcoma is an aggressive tumor in children. Due to its low incidence and nonspecific clinical presentation, as well as its radiological and histopathological characteristics, it is considered a diagnostic challenge. Furthermore, despite the NR4A3 rearrangement being specific to this neoplasm, its evaluation is not routinely performed, as few places have the technology to characterize it. We present the case of a 12-year-old girl with extraskeletal myxoid chondrosarcoma in the right thigh associated with lung metastasis. The diagnosis was ultimately made by integrating the clinical, radiological, histopathological, and ultrastructural features of the chondroblastic differentiation.
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http://dx.doi.org/10.7759/cureus.86605 | DOI Listing |
J Orthop Surg Res
August 2025
Division of Musculoskeletal Oncology, National Cancer Center Hospital, 5-1- 1 Tsukiji, Chuoku, Tokyo, 104-0045, Japan.
Background: Extraskeletal myxoid chondrosarcoma (EMC) is an extremely rare subtype of sarcoma characterized by NR4A3 gene rearrangement. Despite being considered slowly progressive sarcomas, EMCs tend to have local recurrences and distant metastases in the late stages. This study aimed to investigate the prognostic factors of EMCs, especially the effect of (neo)adjuvant radiotherapy or chemotherapy on localized EMCs and chemotherapy on advanced-stage EMCs.
View Article and Find Full Text PDFAm J Case Rep
August 2025
Department of Burn Plastic Surgery and Wound Repair, Ganzhou People's Hospital, Ganzhou, Jiangxi, China.
BACKGROUND Extraskeletal chondrosarcoma is a rare soft tissue sarcoma with no characteristic imaging and clinical manifestations. Therefore, early preoperative diagnosis is difficult and ultimately depends on postoperative pathology and genetic diagnosis. CASE REPORT A 67-year-old man presented with a huge buttock tumor.
View Article and Find Full Text PDFGenes Chromosomes Cancer
August 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal neoplasm of uncertain histogenesis, characterized by recurrent gene fusions involving NR4A3 with various gene partners (EWSR1, TAF15, FUS, etc.). Although the impact of fusion variants has been linked to histology and prognosis, no study to date has comprehensively investigated the incidence and spectrum of secondary genetic alterations (SGAs) in EMC with regard to their association with fusion type and clinical impact.
View Article and Find Full Text PDFCureus
June 2025
Pathology, Instituto Nacional de Pediatría, Mexico City, MEX.
Extraskeletal myxoid chondrosarcoma is an aggressive tumor in children. Due to its low incidence and nonspecific clinical presentation, as well as its radiological and histopathological characteristics, it is considered a diagnostic challenge. Furthermore, despite the NR4A3 rearrangement being specific to this neoplasm, its evaluation is not routinely performed, as few places have the technology to characterize it.
View Article and Find Full Text PDFNeurol Sci
July 2025
Department of Radiology, The Affiliated Huaian Hospital of Xuzhou Medical University, Huaian, 223001, Jiangsu, China.