诊断病理学杂志2024,Vol.31Issue(8) :719-722.DOI:10.3969/j.jssn.1007-8096.2024.08.003

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 histio-cytosis and their clinical significance

韩义明 李红娟 李庆 范婉婷 丁莉 郑杰
诊断病理学杂志2024,Vol.31Issue(8) :719-722.DOI:10.3969/j.jssn.1007-8096.2024.08.003

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 histio-cytosis and their clinical significance

韩义明 1李红娟 2李庆 2范婉婷 1丁莉 1郑杰1
扫码查看

作者信息

  • 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
  • 折叠

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.

Abstract

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 le-sions were composed of histiocytes with obvious nuclear groove,associated with a variable number of eosinophils,lympho-cytes 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 tu-mor.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 di-agnostic 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

Key words

Langerhans cell histiocgtosis/BRAF-V600E gene/Cyclin D1/Immunohistochemistry

引用本文复制引用

基金项目

2023年度荆门市科学技术研究与开发计划项目(2023YDKY017)

出版年

2024
诊断病理学杂志
北京军区总医院

诊断病理学杂志

CSTPCD
影响因子:0.663
ISSN:1007-8096
段落导航相关论文