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Published on: September 20, 2018
[Clinical and pathologic characteristics of Erdheim-Chester disease]
Tao Lu1, Xinxin Cao, Yufeng Luo
1Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
Insights
Erdheim-Chester disease (ECD) is a rare xanthogranulomatous histiocytosis. Diagnosis requires pathological and immunohistochemical findings, often with BRAF V600E mutation, but lacks effective treatment.
Area of Science:
- Pathology
- Histiocytosis
- Genetics
Background:
- Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis.
- Characterized by lipid-laden foamy histiocytes and fibrosis.
Purpose of the Study:
- To detail the clinicopathologic features of Erdheim-Chester disease.
- To investigate immunophenotype, differential diagnosis, and BRAF V600E mutation status.
Main Methods:
- Analysis of 3 Erdheim-Chester disease cases.
- Utilized gross, microscopic, and immunohistochemical examination.
- BRAF V600E mutation analysis and literature review.
Main Results:
- Cases presented with skin nodules, bone pain, and lesions.
- Histopathology revealed foamy histiocytes, fibroblasts, and giant cells.
- Immunohistochemistry showed CD68 positivity; BRAF V600E mutation detected in 2/3 cases.
Conclusions:
- Erdheim-Chester disease is a rare xanthogranulomatous histiocytosis.
- Diagnosis depends on pathological and immunohistochemical findings, correlated with clinical data.
- No effective treatments are currently established.
Objective:
To explore the clinicopathologic features, immunophenotype, differential diagnosis and gene mutation status of the Erdheim-Chester disease (ECD).
Methods:
Clinical and pathologic findings of 3 ECD cases were examined by gross, microscopic, immunohistochemical methods and BRAF V600E mutation. Related literatures were reviewed.
Results:
Two male patients and one female patient presented clinically with multiple skin nodules, bone pain and bony lesions by imaging study. Microscopically, the lesions were composed of spindle-shaped fibroblasts, foamy histiocytes and scattered Touton-type giant cells embedded in reactive fibrous tissue. Lymphocytes, plasma cells, and multinucleated giant cells were also found. Immunohistochemically, all histiocytes were positive for CD68, none of which expressed CD1a, although 2 cases focally expressed weak S-100 stain. In 2 cases,BRAF V600E mutation was detected.
Conclusions:
ECD is a rare disease of xanthogranulomatous histiocytosis.Its diagnosis relies on pathological and immunohistochemical findings, but correlation with clinical information, especially radiographic findings should be performed.No effective treatment of the disease is currently available.
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