Service d'hématologie oncologie pédiatrique, Centre de référence des histiocytoses, AP-HP Hôpital Armand Trousseau, Paris, France.
Orphanet J Rare Dis. 2010 Feb 3;5:3. doi: 10.1186/1750-1172-5-3.
To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.
Correspondents of the French Society of Childhood Malignancies were asked to notify all cases of aggressive vascular abnormalities of bone diagnosed between January 1988 and September 2009.
21 cases were identified; 62% of the patients were boys. No familial cases were observed, and the disease appeared to be sporadic. Mean age at diagnosis was 8.0 years [0.8-16.9 years]. Median follow-up was 3 years [0.3-17 years]. The main presenting signs were bone fracture (n = 4) and respiratory distress (n = 7), but more indolent onset was observed in 8 cases. Lung involvement, with lymphangiectasies and pleural effusion, was the most frequent form of extraosseous involvement (10/21). Bisphosphonates, alpha interferon and radiotherapy were used as potentially curative treatments. High-dose radiotherapy appeared to be effective on pleural effusion but caused major late sequelae, whereas antiangiogenic drugs like alpha interferon and zoledrenate have had a limited impact on the course of pulmonary complications. The impact of bisphosphonates and alpha interferon on bone lesions was also difficult to assess, owing to insufficient follow-up in most cases, but it was occasionally positive. Six deaths were observed and the overall 10-year mortality rate was about 30%. The prognosis depended mainly on pulmonary and spinal complications.
Aggressive vascular abnormalities of bone are extremely rare in childhood but are lifethreatening. The impact of anti-angiogenic drugs on pulmonary complications seems to be limited, but they may improve bone lesions.
记录儿童骨骼侵袭性血管异常的流行病学、临床、组织学和影像学特征。
法国儿童恶性肿瘤协会的通讯员被要求通知所有在 1988 年 1 月至 2009 年 9 月期间诊断为侵袭性血管骨骼异常的病例。
共发现 21 例病例；62%的患者为男性。未观察到家族病例，疾病似乎是散发性的。诊断时的平均年龄为 8.0 岁[0.8-16.9 岁]。中位随访时间为 3 年[0.3-17 年]。主要表现为骨骨折（n=4）和呼吸窘迫（n=7），但 8 例为亚急性发病。肺受累，伴淋巴管扩张和胸腔积液，是最常见的骨外受累形式（21 例中的 10 例）。双膦酸盐、α干扰素和放疗被用作潜在的治愈性治疗方法。高剂量放疗对胸腔积液有效，但会导致严重的晚期后遗症，而抗血管生成药物如α干扰素和唑来膦酸对肺部并发症的病程影响有限。由于大多数情况下随访时间不足，因此评估双膦酸盐和α干扰素对骨病变的影响也很困难，但偶尔也有积极的结果。观察到 6 例死亡，总体 10 年死亡率约为 30%。预后主要取决于肺部和脊柱并发症。
侵袭性血管骨骼异常在儿童中极为罕见，但危及生命。抗血管生成药物对肺部并发症的影响似乎有限，但可能改善骨病变。
