Osteosarcoma A
Osteosarcoma A
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DOI：
10.1038/s41572-022-00409-y
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发表时间：
2022-12-08
影响因子：
81.5
通讯作者：
Gorlick, Richard
中科院分区：
文献类型：
--
作者：
Beird, Hannah C.;Bielack, Stefan S.;Gorlick, Richard
骨肉瘤是最常见的原发性骨恶性肿瘤。骨肉瘤的发病率是双峰的，在18岁和60岁达到高峰，在男性中稍多见。关键的病理生理机制涉及与骨形成相关的几种可能的疾病遗传驱动因素，导致恶性进展和转移。虽然局部疾病患者的预后有显著改善，无事件生存结局超过60%，但转移性疾病患者的无事件生存结局仍然很差，不到30%。基于x线片的骨肉瘤怀疑仍需要对骨活检标本进行病理评估以确定诊断，并应进行胸部CT成像以识别肺结节。到目前为止，由于骨肉瘤的罕见性和缺乏可靠的标志物，尚未实施基于人群的筛查和监测策略。目前的筛查只关注高危人群，如有遗传性癌症易感性综合征的患者。骨肉瘤的治疗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具有长期的不良反应，也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，以改善疾病的预后，特别是对于转移性患者。
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.