朗格汉斯细胞组织细胞增生症临床特点及其BRAF V600E 基因突变与预后的相关性  

Clinical characteristics of Langerhans cell histiocytosis and the correlation between BRAFV600E gene mutation and prognosis

作　　者：朱丽华 金皎 高勤 吴莎莎 黄璟 ZHU Lihua;JIN Jiao;GAO Qin;WU Shasha;HUANG Jing(Department of Pediatric Blood,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,Guizhou,China;Department of Pathology,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,Guizhou,China)

机构地区：[1]贵州医科大学附属医院儿科血液专科,贵州贵阳550004 [2]贵州医科大学附属医院病理科,贵州贵阳550004

出　　处：《贵州医科大学学报》2024年第2期255-260,266,共7页Journal of Guizhou Medical University

基　　金：贵州省科技厅自然科学基金项目(黔科合平台人才[2019]5406号);贵阳市科技局基金项目(GY2015-17);贵州省卫生健康委基金项目(gzwjkj2019-1-002)。

摘　　要：目的 探讨朗格汉斯细胞组织细胞增生症(LCH)临床特征及其BRAF V600E基因突变与患者预后的相关性。方法 选取LCH患者的组织标本17例,组织标本均来源于患者首发病变部位,分析其临床特点和组织病理学特点,通过数字PCR扩增和一代测序的方法测定标本中的BRAF V600E基因,并根据临床分型将其分为单系统病变(SS-LCH)组和多系统病变(MS-LCH)组以及根据年龄分为未成年组和成年组,对不同分组的数据进行阳性率、治疗及愈后疗效分析。结果 在17例LCH患者中,7例BRAF V600E基因突变,总阳性率41.18%;根据临床分型分组,其中单系统病变(SS-LCH)组13例,BRAF V600E基因突变7例,阳性率53.85%,而多系统病变(MS-LCH)组未发生BRAF V600E基因突变;按年龄分组,未成年人组12例、其中BRAF V600E基因突变5例、阳性率41.67%、而3岁以下突变率高于3岁以上(2∶1),成年人组共5例、其中BRAF V600E基因突变2例、阳性率40.00%;经过治疗及随访,SS-LCH组中患者均治愈,MS-LCH组中1例死亡,3例复发,复发患者仍继续治疗。现共16例患者存活,复发及死亡患者受累器官较多,均为未成年组患儿,其余患者均已治愈,且目前均未复发。结论 LCH临床表现复杂多样,可涉及单系统与多系统,未成年人与成年人BRAF V600E基因突变率未观察到差异,但3岁以下低龄儿童病变中该基因突变率有增高的趋势,未观察到BRAF V600E基因突变对预后的影响作用。Objective To explore the clinical characteristics of Langerhans cell histiocytosis(LCH)and the correlation between BRAF V600E gene mutation and prognosis.Methods Tissue samples from 17 patients with LCH were selected,all of which were originated in the site of the first lesion.The clinical and histopathological features were analyzed.The BRAFV600E genes in the samples were determined by digital PCR amplification and first-generation sequencing.The samples were divided into the single-system disease(SS-LCH)group and the multi-system disease(MS-LCH)group according to clinical classification,and the juvenile group and the adult group according to age.The data of the treatment and curative effects from all the groups was analyzed.Results Out of 17 patients with LCH,there wre 7 cases with a BRAF V600E gene mutation;the total positive rate was 41.18%.According to clinical classification,there were 13 cases in SS-LCH group and 7 cases of BRAF V600E gene mutation;the positive rate was 53.85%,while there was no BRAF V600E gene mutation in MS-LCH group.And out of the 12 cases in the minor group,there were 5 cases with BRAF V600E gene mutation,with a positive rate of 41.67%,while the mutation rate under 3 years old was higher than that over 3 years old(2∶1),and out of the 5 cases in the adult group,there were 2 cases of BRAF V600E gene mutation,with a positive rate of 40%.After treatment and follow-up,all the patients of SS-LCH group were cured;one case died and 3 cases relapsed in MS-LCH group,and the recurrent patients continued their treatment.At present,16 patients survived;More organs were affected in patients of recurrence and dead cases and all of them were from the juvenile group.Other patients were cured;and there is no recurrence at present.Conclusion The clinical manifestations of LCH are complex and diverse,and they may be related to the single systems or multiple systems.There is no significant difference in the mutation rate of the BRAF V600E genes between minors and adults,but the mutation rate of the BRAF

关 键 词：朗格汉斯细胞组织细胞增生症 免疫组化分析 BRAF V600E基因突变 单系统病变 多系统病变 

分 类 号：R725.5[医药卫生—儿科]