Erdheim-Chester病合并朗格汉斯细胞组织细胞增生症临床病理观察  

Clinicopathological features of Erdheim-Chester disease accompanied with Langerhans cell histiocytosis

作　　者：陈晓雪 张煜涵 王征 鲁涛[1] 陈博[1] 卢朝辉[1] 霍真[1] CHEN Xiao-xue;ZHANG Yu-han;WANG Zheng;LU Tao;CHEN Bo;LU Zhao-hui;HUO Zhen(Department of Pathology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院病理科,北京100730

出　　处：《诊断病理学杂志》2024年第6期490-493,共4页Chinese Journal of Diagnostic Pathology

基　　金：中央高水平医院临床科研业务费资助(项目编号:2022-PUMCH-B-063)。

摘　　要：目的报道Erdheim-Chester病(ECD)合并朗格汉斯细胞组织细胞增生症(LCH)1例。方法通过光镜、免疫组化和BRAF V600E分子检测确诊并复习相关文献。结果患者女性,58岁,全身皮肤多发肿块伴加重19年,既往确诊ECD。本次取胸部皮肤肿块部分切除活检,镜下见两种成分,一种是泡沫样组织细胞伴杜顿巨细胞,另一种为朗格汉斯组织细胞,大部分区域见两种成分混合。免疫组化CD163、CD68、Cyclin D1弥漫阳性,CD1a、S-100、langerin部分阳性;检测到BRAF V600E突变。确诊后应用达拉菲尼治疗1月,全身皮肤包块明显缩小。结论ECD合并LCH较罕见,诊断依靠影像学结合形态学及免疫组化和分子检测。预后取决于受累的部位,仅骨及皮肤受累患者预后可能相对较好,存在BRAF V600E突变的患者可能明显获益于靶向治疗。Objective To report a case of Erdheim-Chester disease(ECD)as well Langerhans cell histiocytosis(LCH).Methods The diagnosis was confirmed by light microscopy,immunohistochemistry and BRAF V600E molecular detection,and relevant literature was reviewed.Results A 58-year-old woman with multiple skin masses and aggravation for 19 years was diagnosed with ECD.In this biopsy,we took a partial resection of the chest skin mass.Two components were observed under the microscope:one was foam histopathocytes with Dutton giant cells,and the other was Langerhans histopathocytes.In most areas,the two components were mixed.Immunohistochemical CD163,CD68,Cyclin D1 were diffuse positive,CD1a,S-100,langerin partial positive;BRAF V600E mutation detected.After diagnosis,the skin masses of the whole body were significantly reduced after treatment with Tefilor for 1 month.Conclusion ECD combined with LCH is rare,and the diagnosis depends on imaging combined with morphological,immunohistochemical and molecular detection.The prognosis depends on the site of involvement.Patients with bone and skin involvement alone may have a relatively good prognosis,and patients with BRAF V600E mutations may benefit significantly from targeted therapy.

关 键 词：ERDHEIM-CHESTER病 朗格汉斯细胞组织细胞增生症 病理特征 BRAF V600E 

分 类 号：R739.5[医药卫生—肿瘤]