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[Clinicopathological and molecular features of Erdheim-Chester disease accompanied with Langerhans cell
1Department 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).
Insights
Erdheim-Chester disease (ECD) combined with Langerhans cell histiocytosis (LCH) is a rare tumor. Diagnosis requires histopathology, immunohistochemistry, and BRAF V600E gene testing for accurate identification.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) are rare histiocytic disorders.
- Combined ECD and LCH is exceptionally rare, presenting diagnostic challenges.
Purpose of the Study:
- To investigate the clinicopathological and molecular characteristics of combined ECD and LCH.
- To review diagnostic criteria and treatment implications for this rare condition.
Main Methods:
- Retrospective analysis of 4 cases of ECD combined with LCH (2015-2018).
- Evaluation of clinical, histopathological, immunophenotypic, and molecular findings.
- Review of relevant medical literature.
Main Results:
- The study included 4 patients (2 male, 2 female; ages 7-55).
- Histopathology revealed distinct areas with foamy histiocytes, fibroblasts, giant cells, and Langerhans cell-like features.
- Immunohistochemistry showed positivity for CD1a, S-100, CD207/Langerin, cyclin D1, CD68, CD163, and BRAF.
- BRAF V600E mutation was detected in 3 out of 4 cases.
Conclusions:
- Combined ECD and LCH is a rare histiocytosis with unique clinicopathological features.
- Accurate diagnosis depends on integrating histopathology, immunohistochemistry, and molecular testing (BRAF V600E).
- Further research is needed to understand the pathogenesis and optimize treatment for this rare entity.
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.
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