Lackner Herwig, Karastaneva Anna, Schwinger Wolfgang, Benesch Martin, Sovinz Petra, Seidel Markus, Sperl Daniela, Lanz Sofia, Haxhija Emir, Reiterer Friedrich, Sorantin Erich, Urban Christian E
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology/Oncology, Medical University of Graz, Graz, Austria.
Department of Pediatric and Adolescence Surgery, Medical University of Graz, Graz, Austria.
Eur J Pediatr. 2015 Dec;174(12):1579-84. doi: 10.1007/s00431-015-2572-y. Epub 2015 Jun 4.
Vascular anomalies include a heterogeneous group of disorders that are categorized as vascular tumors or vascular malformations. Treatment options include resection, embolization, laser therapy, and sclerotherapy or medical treatment such as propranolol, steroids, interferon, and cytostatic chemotherapy. Mammalian target of rapamycin seems to play a key role in the signal pathway of angiogenesis and subsequently in the development of vascular anomalies. Recently, the successful use of sirolimus has been reported in children with lymphatic malformations and kaposiform hemangioendotheliomas. We report on six patients with different vascular anomalies (kaposiform hemangioendothelioma n = 2, combined lymphatico-venous malformation n = 2, pulmonary lymphangiectasia n = 1, and orbital lymphatic malformation n = 1) who were treated with peroral sirolimus. Three of the children initially presented with a Kasabach-Merrit phenomenon. Median duration of treatment was 10 months; two children are still on treatment. Three children each achieved complete and partial remission. Kasabach-Merrit phenomenon resolved within 1 month in all patients. Treatment with sirolimus was tolerated well; only mild reversible leukopenia was observed.
Sirolimus proved to be effective in children with complicated lymphatic or lymphatico-venous malformations and kaposiform hemangioendotheliomas. Treatment was tolerated well with acceptable side effects. The optimum length of treatment and possible long-term side effects have to be evaluated.
• Vascular anomalies including vascular tumors and vascular malformations may lead to life-threatening conditions.• Some patients are refractory to established treatment and/or are not available for local invasive procedures.
• We reviewed the literature focusing treatment of vascular anomalies inc hildren and adolescents.• Our data support recent studies that sirolimus is an effective treatment option in patients with complicated vascular tumors andmalformations
血管异常包括一组异质性疾病，可分为血管肿瘤或血管畸形。治疗选择包括手术切除、栓塞、激光治疗、硬化治疗或药物治疗，如普萘洛尔、类固醇、干扰素和细胞毒性化疗。雷帕霉素的哺乳动物靶点似乎在血管生成信号通路以及随后的血管异常发展中起关键作用。最近，已有报道西罗莫司成功用于治疗患有淋巴管畸形和卡波西样血管内皮瘤的儿童。我们报告了6例患有不同血管异常的患者（卡波西样血管内皮瘤2例、淋巴管静脉混合畸形2例、肺淋巴管扩张1例、眼眶淋巴管畸形1例），他们接受了口服西罗莫司治疗。其中3名儿童最初出现卡萨巴赫-梅里特现象。中位治疗持续时间为10个月；2名儿童仍在接受治疗。3名儿童分别实现了完全缓解和部分缓解。所有患者的卡萨巴赫-梅里特现象在1个月内均得到缓解。西罗莫司治疗耐受性良好；仅观察到轻度可逆性白细胞减少。
西罗莫司被证明对患有复杂淋巴管或淋巴管静脉畸形以及卡波西样血管内皮瘤的儿童有效。治疗耐受性良好，副作用可接受。治疗的最佳时长和可能的长期副作用有待评估。
• 血管异常包括血管肿瘤和血管畸形，可能导致危及生命的情况。• 一些患者对既定治疗无效和/或无法接受局部侵入性手术。
• 我们回顾了聚焦于儿童和青少年血管异常治疗的文献。• 我们的数据支持了最近的研究，即西罗莫司是治疗复杂血管肿瘤和畸形患者的有效选择。
