Liu Jo-Fen, Shanmugavadivel Dhurgshaarna, Ball-Gamble Ashley, Walker David
Children's Cancer and Leukaemia Group, Leicester, UK
Lifespan and Population Health, University of Nottingham, Nottingham, UK.
Arch Dis Child. 2025 Jul 18;110(8):622-629. doi: 10.1136/archdischild-2024-327879.
Children and young people (CYP) with bone tumours often experience lengthy intervals prior to diagnosis that can lead to increased morbidity and mortality. Early diagnosis is key to optimising treatment options and long-term outcomes. This review aims to describe symptomatology at diagnosis, in order to develop interventions to accelerate diagnosis.
A literature search of MEDLINE and EMBASE was conducted for studies published between January 2008 and May 2023, reporting signs and symptoms in CYP with bone tumours. Pooled proportions of symptoms and signs were calculated.
16 studies (1452 patients; 492 osteosarcoma and 932 Ewing's sarcoma) were included in the analysis. The most prevalent symptoms were pain (64%, 95% CI 52% to 75%) and swelling (22%, 95% CI 6% to 42%). Other symptoms included fever, pain and swelling, history of trauma, pathological fracture, palpable mass, functional limitation, increased volume and limp. Subanalysis identified differences in symptom clusters: osteosarcoma more frequently presented with a history of trauma, pathological fracture, pain on weight-bearing, pain worse at night, pain at rest and weight loss. Ewing's sarcoma was associated with fever, functional limitation and a palpable mass.
These data highlight the differences in presentations between osteosarcoma and Ewing sarcoma, which may account for differences in survival and outcome. This will be used to inform professional and public health interventions through the Child Cancer Smart campaign to accelerate diagnosis for all. This review also highlights the need for a renewed research focus to identify patients earlier in the disease development as a strategy to improve the current static outcomes.
患有骨肿瘤的儿童和青少年在确诊前往往经历较长的间隔期，这可能导致发病率和死亡率增加。早期诊断是优化治疗方案和长期预后的关键。本综述旨在描述诊断时的症状，以便制定加速诊断的干预措施。
对2008年1月至2023年5月发表的研究进行MEDLINE和EMBASE文献检索，报告患有骨肿瘤的儿童和青少年的体征和症状。计算症状和体征的合并比例。
分析纳入了16项研究（1452例患者；492例骨肉瘤和932例尤因肉瘤）。最常见的症状是疼痛（64%，95%置信区间52%至75%）和肿胀（22%，95%置信区间6%至42%）。其他症状包括发热、疼痛和肿胀、外伤史、病理性骨折、可触及肿块、功能受限、体积增大和跛行。亚分析确定了症状群的差异：骨肉瘤更常表现为外伤史、病理性骨折、负重时疼痛、夜间疼痛加重、休息时疼痛和体重减轻。尤因肉瘤与发热、功能受限和可触及肿块有关。
这些数据突出了骨肉瘤和尤因肉瘤临床表现的差异，这可能解释了生存率和预后的差异。这将通过儿童癌症智能运动为专业和公共卫生干预提供信息，以加速所有人的诊断。本综述还强调需要重新聚焦研究，以便在疾病发展的早期识别患者，作为改善当前静止预后的策略。
