Clinicopathological and molecular features of Erdheim-Chester disease accompanied with Langerhans cell histiocytosis
10.3760/cma.j.issn.0529-5807.2019.03.010
- VernacularTitle: 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
- Author:
Haijian HUANG
1
;
Dingrong ZHONG
Author Information
1. 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)
- Publication Type:Journal Article
- Keywords:
Histiocytoma;
Erdheim-Chester disease;
Histiocytosis, Langerhans-cell;
Diagnosis, differential
- From:
Chinese Journal of Pathology
2019;48(3):220-224
- CountryChina
- Language:Chinese
-
Abstract:
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.
