Abstract
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. METHODS: We retrospectively analyzed 171 patients pathologically diagnosed with EMCs between 2002 and 2022 using the Japanese National Bone and Soft Tissue Tumor Registry Database. RESULTS: Disease-specific survival was significantly shorter in the group with distant metastasis at presentation (n = 29) than in the group without (n = 142) (5-year disease-specific survival, 75.8% [95% CI: 54.7-89.1] vs. 91.3% [95% CI: 83.0-95.8]; p = 0.012). Multivariate analysis showed that an R1 or R2 surgical margin was a risk factor for unfavorable local recurrence (hazard ratio [HR] 4.76 [95% CI: 1.72-13.15]; p = 0.003). No association was found between (neo)adjuvant radiotherapy and local recurrence rates. With respect to disease-specific survival, the tumor site of the trunk (HR 6.28 [95% CI: 1.30-30.49]; p = 0.023) and larger size (HR 1.18 [95% CI: 1.06-1.33]; p = 0.004) were risk factors for unfavorable disease-specific survival. No association was found between (neo)adjuvant, or advanced-stage chemotherapy and disease-specific survival rates. CONCLUSIONS: Patients with distant metastases at presentation had significantly shorter survival rates than those without. Wide resection is mandatory to reduce the risk of local recurrence of localized EMCs, and the local control effect of (neo)adjuvant radiotherapy is limited. Chemotherapy has a limited effect on improving survival.