Jensen Anne Birthe Helweg, Andersen Helene Riis Pontoppidan, Jensen Sarah Thorius, Jensen Christina Friis, Amstrup Jesper, Mathiasen René, Henriksen Kasper Amund, Hasle Henrik, Callesen Michael Thude, Brix Ninna
Department of Pediatric and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark.
Department of Pediatric and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.
Eur J Haematol. 2025 Jan;114(1):57-69. doi: 10.1111/ejh.14303. Epub 2024 Sep 18.
Childhood cancer often presents with non-specific signs and symptoms that might mimic non-malignant disorders including musculoskeletal diseases, potentially leading to rheumatic and orthopaedic misdiagnoses. We aimed to compare clinical presentation, diagnostic interval and survival in paediatric acute myeloid leukaemia (AML) with and without initial musculoskeletal symptoms.
This nationwide retrospective, cohort study reviewed medical records of 144 children below 15 years diagnosed with AML in Denmark from 1996 to 2018.
Musculoskeletal symptoms occurred in 29% (42/144) of children with AML and 8% (11/144) received an initial musculoskeletal misdiagnosis, being mainly non-specific and pain-related. The children with and without musculoskeletal symptoms did not differ markedly up to the diagnosis of AML and blood counts were affected equally in both groups. However, the children with prior musculoskeletal symptoms were more likely to have elevated levels of LDH and ferritin. Furthermore, they revealed a tendency towards a longer total interval (median 53 days vs. 32 days, p = 0.07), but the overall survival did not differ.
AML should be considered as an underlying cause in children with unexplained musculoskeletal symptoms and abnormal blood counts. Concomitant elevation of LDH and ferritin should strengthen the suspicion.
儿童癌症常表现为非特异性体征和症状，可能类似于包括肌肉骨骼疾病在内的非恶性疾病，从而可能导致风湿和骨科误诊。我们旨在比较有和没有初始肌肉骨骼症状的儿童急性髓系白血病（AML）的临床表现、诊断间隔和生存率。
这项全国性的回顾性队列研究回顾了1996年至2018年在丹麦诊断为AML的144名15岁以下儿童的病历。
AML患儿中有29%（42/144）出现肌肉骨骼症状，8%（11/144）最初被误诊为肌肉骨骼疾病，主要是非特异性的且与疼痛相关。在AML诊断之前，有和没有肌肉骨骼症状的儿童没有明显差异，两组的血细胞计数受到的影响相同。然而，先前有肌肉骨骼症状的儿童更有可能出现乳酸脱氢酶（LDH）和铁蛋白水平升高。此外，他们显示出总间隔时间有延长的趋势（中位数53天对32天，p = ０.07），但总体生存率没有差异。
对于有无法解释的肌肉骨骼症状和血细胞计数异常的儿童，应考虑AML为潜在病因。LDH和铁蛋白同时升高应增强怀疑。
