尤文肉瘤是一种小圆细胞肉瘤，其特征是涉及 EWSR1（或另一种 TET 家族蛋白，如 FUS）和 ETS 家族转录因子的基因融合。这种罕见的骨肿瘤最常发生在青少年和年轻人中，估计发病率为每年每 10 万人 0.​​3 例。尽管只有 25% 的尤文肉瘤患者被诊断患有转移性疾病，但历史系列表明这是一种全身性疾病。除了局部治疗（手术和/或放疗）外，患者管理还需要多模式治疗，包括强化化疗。在复发/难治性疾病的情况下，还建议采用涉及全身治疗和局部治疗的不同方法，并尽可能将患者纳入临床试验。由于尤文肉瘤诊断和治疗的复杂性，应在专门的中心进行，并由多学科肿瘤委员会预先设计治疗计划。这些指南为尤文肉瘤的诊断、分期和多模式治疗提供建议。© 2024。作者。

Ewing sarcoma is a small round-cell sarcoma characterized by gene fusion involving EWSR1 (or another TET family protein like FUS) and an ETS family transcription factor. The estimated incidence of this rare bone tumor, which occurs most frequently in adolescents and young adults, is 0.3 per 100,000/year. Although only 25% of patients with Ewing sarcoma are diagnosed with metastatic disease, historical series show that this is a systemic disease. Patient management requires multimodal therapies-including intensive chemotherapy-in addition to local treatments (surgery and/or radiotherapy). In the recurrent/refractory disease setting, different approaches involving systemic treatments and local therapies are also recommended as well as patient inclusion in clinical trials whenever possible. Because of the complexity of Ewing sarcoma diagnosis and treatment, it should be carried out in specialized centers and treatment plans should be designed upfront by a multidisciplinary tumor board. These guidelines provide recommendations for diagnosis, staging, and multimodal treatment of Ewing sarcoma.© 2024. The Author(s).