Huang H J, Zhong D R
Department of Pathology, Peking Union Medical, College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China (Huang Haijian is working on the Department of Pathology, Fujian Provincal Hospital, Provincial Clinical Medical College of Fujian Medical University, Fuzhou 350001, China).
Zhonghua Bing Li Xue Za Zhi. 2019 Mar 8;48(3):220-224. doi: 10.3760/cma.j.issn.0529-5807.2019.03.010.
To investigate the clinicpathological and molecular features of Erdheim-Chester disease (ECD) as well langerhans cell histiocytosis (LCH). 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. 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. ECD combined LCH was a very rare histiocytosis tumor and its correct diagnosis relies on histopathologic features, immunohistochemical staining, and BRAF V600E gene detection.
研究 Erdheim-Chester 病（ECD）以及朗格汉斯细胞组织细胞增多症（LCH）的临床病理和分子特征。回顾相关文献，对 2015 年 2 月至 2018 年 9 月期间 4 例 ECD 合并 LCH 患者的临床、组织病理学、分子学结果、免疫表型、治疗及预后进行评估。患者中 2 例为男性，2 例为女性，年龄在 7 - 55 岁之间。显微镜下可见两个不同区域，在第一个区域，病变由泡沫状组织细胞、梭形成纤维细胞、散在的多核巨细胞组成，还发现了淋巴细胞、浆细胞和巨细胞。在另一个区域，病变由具有明显核沟的组织细胞组成，伴有数量不等的嗜酸性粒细胞、淋巴细胞和浆细胞。免疫表型方面，在第二个区域，组织细胞 CD1a（4/4）、S - 100（4/4）、CD207/Langerin（4/4）、细胞周期蛋白 D1（4/4）呈阳性，在两个不同区域，组织细胞 CD68、CD163、Braf 呈阳性。Ki - 67 阳性指数为 1% - 10%。3 例检测到 BRAF V600E 基因突变。ECD 合并 LCH 是一种非常罕见的组织细胞增多症肿瘤，其正确诊断依赖于组织病理学特征、免疫组化染色及 BRAF V600E 基因检测。
