Osteosarcoma is the most common primary malignant tumour of the bone. Osteosarcoma incidence is bimodal, peaking at 18 and 60 years of age, and is slightly more common in males. The key pathophysiological mechanism involves several possible genetic drivers of disease linked to bone formation, causing malignant progression and metastasis. While there have been significant improvements in the outcome of patients with localized disease, with event-free survival outcomes exceeding 60%, in patients with metastatic disease, event-free survival outcomes remain poor at less than 30%. The suspicion of osteosarcoma based on radiographs still requires pathological evaluation of a bone biopsy specimen for definitive diagnosis and CT imaging of the chest should be performed to identify lung nodules. So far, population-based screening and surveillance strategies have not been implemented due to the rarity of osteosarcoma and the lack of reliable markers. Current screening focuses only on groups at high risk such as patients with genetic cancer predisposition syndromes. Management of osteosarcoma requires a multidisciplinary team of paediatric and medical oncologists, orthopaedic and general surgeons, pathologists, radiologists and specialist nurses. Survivors of osteosarcoma require specialized medical follow-up, as curative treatment consisting of chemotherapy and surgery has long-term adverse effects, which also affect the quality of life of patients. The development of osteosarcoma model systems and related research as well as the evaluation of new treatment approaches are ongoing to improve disease outcomes, especially for patients with metastases.

骨肉瘤是最常见的原发性骨恶性肿瘤。骨肉瘤的发病率呈双峰性，在 18 岁和 60 岁时达到高峰，男性略多见。关键的病理生理机制涉及与骨形成相关的疾病的几种可能的遗传驱动因素，导致恶性进展和转移。虽然局部疾病患者的预后有显着改善，无事件生存率超过 60%，但在转移性疾病患者中，无事件生存率仍然很差，不到 30%。根据 X 光片怀疑骨肉瘤仍需要对骨活检标本进行病理学评估以明确诊断，并应进行胸部 CT 成像以识别肺结节。迄今为止，由于骨肉瘤罕见且缺乏可靠的标记物，因此尚未实施基于人群的筛查和监测策略。目前的筛查仅关注高危人群，例如患有遗传性癌症易感综合征的患者。骨肉瘤的管理需要一个由儿科和内科肿瘤学家、骨科和普通外科医生、病理学家、放射科医生和专科护士组成的多学科团队。骨肉瘤的幸存者需要专门的医疗随访，因为包括化疗和手术在内的治愈性治疗会产生长期的不良反应，这也会影响患者的生活质量。骨肉瘤模型系统的开发和相关研究以及新治疗方法的评估正在进行中，以改善疾病结果，