儿童皮肤单器官受累的朗格罕细胞组织细胞增生症的临床分析  

Clinical research on childhood Langerhans cell histiocytosis with skin-limited lesion

作　　者：廉红云 赵晓曦 张莉 崔蕾 马宏浩 王冬 赵云泽 李志刚 王天有 张蕊 Lian Hongyun;Zhao Xiaoxi;Zhang Li;Cui Lei;Ma Honghao;Wang Dong;Zhao Yunze;Li Zhigang;Wang Tianyou;Zhang Rui(Beijing Key Laboratory of Pediatric Hematology Oncology,National Key Discipline of Pediatrics,Capital Medical University,Key Laboratory of Major Diseases in Children,Ministry of Education,Hematology Oncology Center,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Laboratory of Hematologic Diseases,Beijing Pediatric Research Institute,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院血液肿瘤中心,儿童血液病与肿瘤分子分型北京市重点实验室,儿科学国家重点学科,儿科重大疾病研究教育部重点实验室,北京100045 [2]国家儿童医学中心,首都医科大学附属北京儿童医院,北京市儿科研究所,血液疾病研究室,北京100045

出　　处：《中华实用儿科临床杂志》2021年第7期520-524,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家科技重大专项(2017ZX09304029004);首都卫生发展科研专项(首发2020-2-2093);北京市医院管理中心儿科学科协同发展中心专项(XTZD20180201)。

摘　　要：目的了解儿童皮肤单器官受累的朗格罕细胞组织细胞增生症(LCH)的临床特点及预后。方法回顾性分析2013年12月至2018年6月首都医科大学附属北京儿童医院血液肿瘤中心收治的16例皮肤单器官受累LCH患儿的临床特点及预后。结果共收治578例LCH患儿,16例(2.7%)为皮肤单器官受累LCH。男女比例为1.28∶1.00,出现皮疹的中位年龄为3.5个月(3 d~2岁5个月),诊断时中位年龄6个月(2个月14 d~2岁8个月)。16例中脂溢性皮炎样病变最常见,为68.7%(11例);躯干部位最常受累,为75.0%(12例)。10例患儿检测病理组织中编码丝氨酸/苏氨酸蛋白激酶的基因V600E位点[BRAF(p.V600E)]突变情况,9例呈阳性;其中5例接受血浆BRAF(p.V600E)突变检测,4例呈阳性。11例(68.7%)接受治疗,其中6例(37.5%)接受LCH-2009一线方案治疗25周;3例(18.8%)接受局部外用类固醇药物治疗3个月,均在3~6个月达到疾病无活动;2例(12.5%)单发皮损患儿均接受局部病灶切除活检,术后疾病无活动。余5例(31.3%)未接受任何治疗,仅观察及定期疾病评估,均在3~6个月达到疾病无活动,但1例血浆BRAF(p.V600E)突变检测持续阳性患儿,于第24个月出现骨受累,接受LCH-2009一线方案治疗,至末次随诊,无进一步疾病进展的临床或影像学证据。至随访截止日期,中位随访时间为32.8个月(2.9~63.9个月),所有患儿存活,仅1例出现疾病活动,余为疾病无活动状态,2年无事件生存率为(92.3±7.4)%,治疗组和观察组无事件生存率比较差异无统计学意义(χ^(2)=1.250,P=0.264)。结论皮肤单器官受累LCH常发生在婴幼儿时期,具有较强的异质性,脂溢性皮炎样病变是最常见的皮损类型。患儿预后通常良好,少数进展为多系统受累。Objective To understand the clinical characteristics and prognosis of Langerhans cell histiocytosis(LCH)with skin-limited lesion.Methods A retrospective analysis was performed on clinical characteristics and prognosis of 16 skin-limited LCH patients,out of 578 LCH patients who were hospitalized in Beijing Children′s Hospital during December 2013 to June 2018.Results A total of 16 skin-limited LCH cases,accounted for 2.7%of all 578 cases,were included.Among which,sex ratio(male vs.female)was 1.28∶1.00.Median ages of skin eruption occurrence and of diagnosis of the disease were 3.5 months(3 days to 2 years and 5 months)and 6 months(2 months 14 days to 2 years and 8 months)in this group.Among the 16 cases,seborrheic dermatitis-like lesions(11 cases,68.7%)was the most common,and the trunk was most frequently involved[75.0%(12 cases)].Serine/threonine protein kinase gene V600E[BRAF(p.V600E)]mutation was detected in pathological specimens from 10 skin-limi-ted cases,with 9 cases being positive.Plasma samples from 5 positive cases were further detected for BRAF(p.V600E)mutation,and 4 positive results were gained.Of all 16 patients,11 cases(68.7%)were treated.Remission were achieved in 3-6 months from treatment start in patients treated whether according to the Histiocyte Society′s LCH-2009 protocol for 25 weeks(6 cases,37.5%),or with topical mometasonefuroate for 3 months(3 cases,18.8%).Two patients(12.5%)with solitary cutaneous lesions underwent excision biopsy(one face and one prepuce)and were considered to be in remission immediately after surgery.None of these patients suffered from the recurrence of the disease.The remaining 5 patients(31.3%)with skin-limited LCH were just evaluated regularly,and achieved remission in 3-6 months of commencing observation.Among these untreated patients,1 with consistently positive BRAF(p.V600E)mutation in plasma had bone involvement in the 24th month of assessment,and was then treated based on the Histiocyte Society′s LCH-2009 Protocol.No clinical or imageological evidence s

关 键 词：儿童 郎格罕细胞组织细胞增生症 皮肤 

分 类 号：R725.9[医药卫生—儿科]