骨卡波西型血管内皮细胞瘤1例并文献复习

Kaposiform hemangioendothelioma of bone:a case report with a literature review

目的探讨儿童骨卡波西型血管内皮细胞瘤(Kaposiform hemangioendothelioma,KHE)的临床特征、病理特点、诊疗方法及预后情况,以提高对该病的诊治水平。方法以2014年11月9日南京医科大学附属儿童医院骨科收治的1例儿童骨KHE患者为研究对象,并回顾分析其临床资料;检索维普、万方、CNKI、Pubmed、Medline数据库截至2020年5月关于儿童骨卡波西型血管内皮细胞瘤的相关文献,并进行分析。结果本例KHE原发于跟骨,行活检及病理检查明确诊断后,于外院接受西罗莫司口服治疗,随访5年6个月,带瘤生存。通过文献检索,检索到10篇儿童骨KHE相关文献,联合本次报道1例患者分析结果如下:共15例患者。11例(11/15,73%)出现患处疼痛,5例(5/15,33%)可见局部肿胀,5例(5/15,33%)触痛明显,7例(7/15,47%)出现活动受限。4例脊柱病变患者中,2例(2/4,50%)出现脊柱侧弯,1例(1/4,25%)出现下肢跛行。所有患者未发现明显的皮肤异常。1例(1/15,6.5%)锁骨病变患者出现卡-梅现象。9例行X线检查,7例(7/9,78%)提示溶骨性改变,3例(3/9,33%)提示不同程度硬化,2例(2/9,22%)提示骨密度欠均匀,1例(1/9,11%)提示骨皮质变薄。11例行CT检查,均提示溶骨性改变,7例(7/11,64%)提示骨皮质变薄或破坏。9例行MRI检查,7例(6/9,67%)提示T1低信号、T2高信号,1例(1/9,11%)提示T1高信号、T2高信号,1例(1/9,11%)提示T2低信号,1例(1/9,11%)提示局部骨质破坏。3例行骨扫描检查,均提示病灶呈高摄取率。治疗资料齐全者12例,6例(6/12,50%)病灶广泛切除治疗,2例(2/12,17%)采用西罗莫司治疗,1例(1/12,8%)长春新碱化疗,1例(1/12,8%)沙利度胺和塞来昔布口服治疗,1例(1/12,8%)行脊柱融合固定术,1例(1/12,8%)未接受任何治疗。12例平均随访时间45.9个月,7例(7/12,58%)临床痊愈(症状体征消失,影像学结果阴性,未见肿瘤复发、进展或转移),5例(5/12,42%)带瘤生存(症状体征缓解或消失,影像学结果提示病灶稳定或缩小,未见肿瘤进展或转移)。7例临床痊愈患者平均随访时间52.9个月,其中手术治疗者6例(6/7,86%),长春新碱化疗者1例(1/7,14%)。5例带瘤生存患者平均随访时间35.8个月,包括西罗莫司治疗者2例(2/5,40%),沙利度胺和塞来昔布治疗者1例(1/5,20%),脊柱融合固定者1例(1/5,20%),无任何治疗者1例(1/5,20%)。结论原发于骨的儿童KHE极为罕见,其临床表现及影像学表现均不具特异性,早期行活检术并借助病理学检查和免疫组化方法有助于确诊此病。肿瘤完整切除的患者预后良好,提示手术切除目前可作为根治儿童骨KHE的首选方式。药物治疗儿童骨KHE的指征、方式及效果,尚需通过多中心大样本前瞻性研究加以规范和证实。

Objective To explore the clinical manifestations,pathological features,diagnoses,treatments and outcomes of pediatric Kaposiform hemangioendothelioma(KHE)of bone.Methods A case of pediatric KHE of bone was reported along with more cases from the databases of Wanfang,Weipu,CNKI,PubMed and Medline prior to May 2020.Results The lesion of this child was originally derived from calcaneal.After a definite diagnosis through biopsy and pathological examination,treatment of sirolimus was offered at another hospital.After a follow-up period of 66 months,the child survived with disease.A total of 15 pediatric KHE of bone were reported without obvious cutaneous lesion.Only 1 case(1/15,6.5%)with clavicular lesions developed KMP.There were pain(n=11),local swelling(n=5),tenderness(n=5)and restricted movement(n=7).Among 4 children with spinal lesions,there were scoliosis(n=2)and claudication(n=1).Among 9 children receiving radiographic examination,there were lytic lesion(n=7),sclerosis(n=3),uneven bone density(n=2)and thinning of bone cortex(n=1).Among 11 children with CT examination,there were osteolytic changes(n=11)and thinning or destruction of bone cortex(n=7).Among 9 children with MRI examination,there were low T1-weighted&high T2-weighted signal(n=7),high T1-weighted&high T2-weighted signal(n=1)and low T2-weighted signal(n=1).And 3-phase bone scan hinted at higher bone uptake(n=3).Complete treatment data were available for 12 children,the treatments included wide lesional excision(n=6),sirolimus(n=2),vincristine(n=1),thalidomide&celecoxib(n=1),spinal fusion fixation(n=1)and non-treatment(n=1).The mean follow-up period was 45.9(6-186)months.Seven cases survived without any evidence of disease(symptoms/signs disappear,negative imaging results,no tumor recurrence,progression or metastasis)while another 5 cases survived with disease(clinical presentations ease or disappear,imaging results of stable lesions or reduction,no tumor progression or metastasis).The mean follow-up time of 7 survivors without any evidence of disease was 52.9(6-186)months,including surgery(n=6)and vincristine dosing(n=1).The mean follow-up time of 5 survivors with disease was 35.8(8-66)months.The treatments included sirolimus(n=2),thalidomide&celecoxib(n=1),spinal fusion fixation(n=1)and non-treatment(n=1).Conclusion Pediatric KHE of bone is extremely rare and its clinical and imaging presentations are generally non-specific.Early biopsy and pathological examination are helpful for its diagnosis.Children with complete tumor resection have an excellent prognosis,suggesting that surgical resection is a first choice.Drug therapy for pediatric KHE of bone should be standardized and confirmed by prospective multi-center large-sample studies.