J Pathol Transl Med.  2018 May;52(3):183-190. 10.4132/jptm.2017.10.16.

Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report

• Sung YE
• Lee YS
• Lee J
• Lee KY

• KMID: 2412931
• DOI: http://doi.org/10.4132/jptm.2017.10.16

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.

Keyword

Erdheim-Chester disease; Lymph nodes; Vertebrae; Pleura; Liver

MeSH Terms

Biopsy
Bone Marrow
Erdheim-Chester Disease*
Histiocytosis
Histiocytosis, Langerhans-Cell
Humans
Liver Failure
Liver*
Lymph Nodes*
Lymphoma*
Male
Middle Aged
Pleura
Protein Kinases
Spine
Protein Kinases

Figure

• 

  Fig. 1. (A–C) Abdominal computed tomography (CT) scan shows multiple enlarged paraaortic, aortocaval, common iliac, and inguinal lymph nodes (arrows). (B, D) Hepatomegaly and splenomegaly are also suspected (arrows). (E, F) Chest CT scan shows supraclavicular lymph node enlargement (E, arrow) and mediastinal lymph node enlargement (F, arrow). (F) Pleural mass is detected on chest CT (arrowhead). (G) Positron emission tomography–CT scan shows enlargement of multiple mediastinal and retroperitoneal lymph nodes. (H) Diffuse axial and appendicular skeletal involvement was suspected. (I, J) Video-assisted thoracosurgery showed multiple pleural nodules attached to the parietal pleura (arrowhead).

• 

  Fig. 2. (A, B) Histopathologic examination of pleural biopsy revealed a proliferating lesion of spindle to oval-shaped cells with a fibrous background. (C) Some cells showed vacuolated or focal clear cytoplasm. Otherwise, they had abundant eosinophilic, fine, granular cytoplasm. (D) A few cells with hyperchromatic and pleomorphic nuclei were noted, and mitosis was rarely found (<1/10 high-power field). (E, F) In some areas, tumor cells showed marked spindle shape with the impression of randomly arranged fascicles. (G, H) External iliac lymph node (G) and bone marrow (H) biopsy showed similar tumor cells to the previous pleural biopsy. (I) Subsequent liver biopsy also revealed the same type of cells aggregating with fibrosis in the liver parenchyma.

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  Fig. 3. CD68 immunohistochemical stain is positive in tumor cells (A); S-100 (B) and CD1a (C) are negative. Low-power view of hematoxylin and eosin stain and CD68 immunohistochemical stain of pleural mass excision (D); external iliac lymph node biopsy (E); bone marrow biopsy (F); liver biopsy (G).

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