Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report
- Author:
Yeoun Eun SUNG
1
;
Yoon Seo LEE
;
Jieun LEE
;
Kyo Young LEE
Author Information
- Publication Type:Case Report
- Keywords: Erdheim-Chester disease; Lymph nodes; Vertebrae; Pleura; Liver
- MeSH: Biopsy; Bone Marrow; Erdheim-Chester Disease; Histiocytosis; Histiocytosis, Langerhans-Cell; Humans; Liver Failure; Liver; Lymph Nodes; Lymphoma; Male; Middle Aged; Pleura; Protein Kinases; Spine
- From:Journal of Pathology and Translational Medicine 2018;52(3):183-190
- CountryRepublic of Korea
- Language:English
- Abstract: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis and multisystem disease. First described in 1930, there are no more than 750 cases reported. The etiology remains unknown, but a majority of cases of ECD and Langerhans cell histiocytosis were found to have clonal mutations involving genes of the mitogen-activated protein kinase pathway. We recently encountered a 53-year-old male patient with extensive ECD involving the systemic lymph nodes, pleura, liver, and long bones clinically mimicking malignant lymphoma. Biopsies were performed at multiple sites, including a pleural mass, an external iliac lymph node, bone marrow, and the liver. Based on histopathological and immunohistochemical findings of positivity for CD68 and negativity for CD1a and S-100, the patient was diagnosed with ECD. Interferon-α was administered as the first-line treatment, but the patient rapidly progressed to hepatic failure after 2 months of treatment. We report this rare case of ECD clinically mimicking malignant lymphoma and diagnosed by careful pathological review.
