朗格汉斯细胞组织细胞增生症BRAF-V600E基因突变和Cyclin D1表达及临床意义  

Mutation of BRAF-V600E gene and expression of cyclin D1 protein in Langerhans cell histiocytosis and their clinical significance

作　　者：韩义明 李红娟 李庆 范婉婷 丁莉 郑杰 HAN Yi-ming;LI Hong-juan;LI Qing;FAN Wang-ting;DING Li;ZHENG Jie(Department of Pathology,Jingmen Center Hospital/Affiliated Jingmen Center Hospital,Jingchu University of Technology,Jingmen 448000,China;Department of Clinical Laboratory,Jingmen Center Hospital/Affiliated Jingmen Center Hospital,Jingchu University of Technology,Jingmen 448000,China)

机构地区：[1]荆门市中心医院/荆楚理工学院附属荆门市中心医院病理科,湖北荆门448000 [2]荆门市中心医院/荆楚理工学院附属荆门市中心医院检验科,湖北荆门448000

出　　处：《诊断病理学杂志》2024年第8期719-722,共4页Chinese Journal of Diagnostic Pathology

基　　金：2023年度荆门市科学技术研究与开发计划项目(编号:2023YDKY017)。

摘　　要：目的探讨朗格汉斯细胞组织细胞增生症(LCH)中BRAF-V600E基因突变状态、Cyclin D1蛋白表达,及其临床意义。方法收集2017年10月至2023年7月荆门市中心医院诊断的5例LCH,进行组织病理学观察、免疫组织化学染色及BRAF-V600E基因突变检测,并随访及复习文献。结果男性3例,女性2例,发病年龄6~59岁(中位年龄20岁)。组织病理学:肿瘤细胞呈片、巢状分布,胞质丰富、淡染,细胞核呈肾形、咖啡豆样、有核沟,背景伴有较多嗜酸性粒细胞、淋巴细胞及组织细胞浸润。免疫表型:肿瘤细胞呈CD1α、Langerin、S-100、Cyclin D1阳性。BRAF-V600E基因突变率:1例病例检测到BRAF-V600E基因突变。结论LCH是一种具有复杂的临床病理学特征、少见的未成熟树突状细胞异常增生导致的肿瘤性疾病,容易误诊、漏诊,Cyclin D1蛋白及BRAF-V600E基因突变检测可作为LCH辅助诊断指标,并为靶向治疗提供依据。Objective To investigate the mutation of BRAF-V600E gene and expression of cyclin D1 protein in LCH and to observe their clinical significance.Methods The clinical and pathological features,immunophenotype,mutation of BRAF-V600E gene and prognosis in 5 cases of LCH were evaluated from November 2017 to July 2023 with review of the relevant literature.Results Three cases were male,and 2 were female,aged from 6-59 years.Microscopically,the lesions were composed of histiocytes with obvious nuclear groove,associated with a variable number of eosinophils,lymphocytes and plasma cells.Immunophenotypically,CDla,Langerin,S-100 and cyclin D1 were positive,Ki-67 positive index was 1%-10%.BRAF-V600E gene mutation was detected in one case.Conclusion LCH is a very rare histiocytosis tumor.Due to the low incidence and lack of systematic knowledge,the clinical understanding of LCH is insufficient,thus the rate of misdiagnosis is high.Cyclin D1 immunohistochemistry and BRAF-V600E gene mutation may be useful as novel diagnostic markers of neoplasia in LCH.These markers might be used to support BRAF inhibitor therapy.

关 键 词：朗格汉斯细胞组织细胞增生症 BRAF-V600E基因 Cyclin D1 免疫组织化学 

分 类 号：R733[医药卫生—肿瘤]