Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart.
- Author:
Pengcheng ZHU
1
;
Naping LI
;
Lu YU
;
Mariajose Navia MIRANDA
;
Guoping WANG
;
Yaqi DUAN
Author Information
- Publication Type:Case Report
- Keywords: Histiocytosis; Erdheim-Chester disease; Rosai-Dorfman disease; Emperipolesis
- MeSH: Emperipolesis*; Erdheim-Chester Disease*; Extremities; Female; Heart*; Histiocytes; Histiocytosis; Histiocytosis, Non-Langerhans-Cell; Histiocytosis, Sinus; Humans; Lymphocytes; Middle Aged; Pericardial Effusion; Pericardium; Ribs; Spine
- From:Cancer Research and Treatment 2017;49(2):553-558
- CountryRepublic of Korea
- Language:English
- Abstract: Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68⁺/CD163⁺/S-100⁺/CD1α⁻/langerin⁻) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features.
