Erdheim-Chester病合并朗格汉斯细胞组织细胞增生症临床病理学及分子学特征

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

目的探讨Erdheim-Chester病(ECD)合并朗格汉斯细胞组织细胞增生症(LCH)的临床病理学特征、免疫组织化学及BRAF V600E基因突变状态。方法收集北京协和医院2015年2月至2018年9月诊断的4例ECD合并LCH进行组织形态学、免疫组织化学及BRAF V600E基因检测,并随访及复习相关文献。结果男性2例,女性2例,发病年龄7~55岁(平均32.5岁)。病理组织学:病变有两种区域,一是病变细胞呈泡沫样组织细胞样,伴有纤维母细胞增生,可见散在分布的多核巨细胞,间质炎性细胞浸润,二是组织细胞浸润,可见核沟,间质见较多嗜酸性粒细胞浸润。免疫表型:第二种区域细胞呈S-100蛋白、CD1a、CD207/Langerin、cyclin D1阳性;2种区域细胞共同阳性表达CD68、CD163、Braf。Ki-67阳性指数约为1%~10%。分子病理检测:3例(3/4)检测到BRAF V600E基因突变。结论 ECD合并LCH属于罕见的组织细胞发生的肿瘤,具有一定的组织学特征。诊断主要依靠影像学、病理形态学、免疫组织化学标记及BRAF V600E基因检测。

Objective To investigate the clinicpathological and molecular features of Erdheim-Chester disease (ECD) as well langerhans cell histiocytosis (LCH).Methods The clinical, histopathological, molecular findings, immunophenotype, treatment and prognosis in 4 cases of ECD combined LCH were evaluated from February 2015 to September 2018 with review of the relevant literature.Results 2 cases were male, and 2 were female, aged from 7-55 years. Microscopically, there were two different areas, in the first area, the lesions were composed of foamy histiocytes, spindle-shaped fibroblasts, scattered multinucleated giant cells. Lymphocytes, plasma cells, and giant cells were also found. In the other, the lesions were composed of histiocytes with obvious nuclear groove, associated with a variable number of eosinophils, lymphocytes and plasma cells. Immunephenotype, In the second area, histiocytes were positive for CD1a (4/4), S-100 (4/4),CD207/Langerin (4/4), cyclin D1(4/4), and in the two different area, the histiocytes were positive for CD68, CD163, Braf. Ki-67 positive index 1%-10% BRAF V600E gene mutation was detected in three cases.Conclusion ECD combined LCH was a very rare histiocytosis tumor and its correct diagnosis relies on histopathologic features, immunohistochemical staining, and BRAF V600E gene detection.