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JPTM > Ahead-of Print

doi: https://doi.org/10.4132/jptm.2017.10.16    [Epub ahead of print]
Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report
Yeoun Eun Sung1, Yoon Seo Lee2, Jieun Lee2,3, Kyo Young Lee1
1Department of Pathology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
2Division of Medical Oncology, Department of Internal Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
3Cancer Research Institute, The Catholic University of Korea, Seoul, Korea
Corresponding Author: Kyo Young Lee ,Tel: 82-2-2258-1618, Fax: 82-2-2258-1627, Email: leekyoyo@catholic.ac.kr
Received: June 25, 2017;  Revised: September 29, 2017  Accepted: October 16, 2017.  Published online: December 27, 2017.
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 MAPK 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.
Key Words: Erdheim-Chester Disease, Lymph nodes, Vertebrae, Pleura, Liver