3rd Orthopedic and Traumatologic Clinic prevalently Oncologic IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Laboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Oncol Res Treat. 2024;47(10):496-508. doi: 10.1159/000540613. Epub 2024 Jul 31.
Extraskeletal Ewing sarcoma (EEwS) is a rare malignant tumor, and current international recommendations indicate systemic and local treatment like bone Ewing sarcoma (BEwS); to the best of our knowledge, very few studies tried to explore the clinical and genetic characteristics of this tumor, and the most appropriate treatment strategy remains uncertain.
We reviewed 35 EEwS cases enrolled at Rizzoli Orthopedic Institute in Bologna, Italy, between 1988-2022. We performed RNA sequencing in 18 Ewing sarcoma cases, including 12 BEwSs and 6 EEwSs. We analyzed overall survival (OS), local relapse-free survival (LRFS), and metastasis-free survival (MFS) and the risk factors associated to survival.
Unsupervised hierarchical clustering showed no differences in the transcriptional profile between EEwS and BEwS. Five-year OS was 67% (95% confidence interval [CI]: 47-80), 5-year LRFS was 61% (95% CI: 43-75), and 5-year MFS was 55% (95% CI: 38-70). Recurrent tumors, larger than 8 cm, and elevated lactate dehydrogenase (LDH) serum value resulted to be negative prognostic factors.
The finding/detection of a genetic profile that is indistinguishable between EEwS and BEwS confirms the view that the two subgroups belong to the same tumor entity and supports the use of a single therapeutic approach for Ewing sarcoma, regardless of the site of origin. Statistical evaluation showed that size bigger than 8 cm, elevated LDH, and recurrent tumors had a worse prognosis, suggesting a risk-stratification method for identifying patients for specific therapy treatment. However, larger, multicenter, prospective trials are called for to validate our findings.
骨外尤文肉瘤（EEwS）是一种罕见的恶性肿瘤，目前国际指南建议采用全身和局部治疗方法，与骨尤文肉瘤（BEwS）相同；据我们所知，很少有研究试图探索这种肿瘤的临床和遗传特征，最适当的治疗策略仍不确定。
我们回顾了意大利博洛尼亚里佐利骨科研究所 1988 年至 2022 年间收治的 35 例 EEwS 病例。我们对 18 例尤文肉瘤病例（包括 12 例 BEwSs 和 6 例 EEwSs）进行了 RNA 测序。我们分析了总生存（OS）、局部无复发生存（LRFS）和无转移生存（MFS）以及与生存相关的危险因素。
无监督层次聚类显示 EEwS 和 BEwS 之间的转录谱没有差异。5 年 OS 为 67%（95%置信区间[CI]：47-80），5 年 LRFS 为 61%（95% CI：43-75），5 年 MFS 为 55%（95% CI：38-70）。复发性肿瘤、大于 8cm 且乳酸脱氢酶（LDH）血清值升高是预后不良的危险因素。
在 EEwS 和 BEwS 之间发现/检测到无法区分的遗传特征证实了这两个亚组属于同一肿瘤实体的观点，并支持无论起源部位如何，采用单一治疗方法治疗尤文肉瘤。统计评估表明，肿瘤大于 8cm、LDH 升高和复发性肿瘤的预后较差，提示可采用风险分层方法识别需要特定治疗的患者。然而，需要更大规模、多中心、前瞻性试验来验证我们的发现。
