title: Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart.
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 aBRAFV600E 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 aBRAFmutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features.
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Pengcheng
authors.initials: P
authors.lastname: Zhu
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Naping
authors.initials: N
authors.lastname: Li
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Yu
authors.affiliation: Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Mariajose Navia
authors.initials: MN
authors.lastname: Miranda
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Guoping
authors.initials: G
authors.lastname: Wang
authors.affiliation: Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.|Department of Pathology, School of Basic Medical Science, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Yaqi
authors.initials: Y
authors.lastname: Duan
mesh_terms: D015415:Biomarkers; D001842:Bone and Bones / Q000473:pathology; D003062:Codon; D057687:Emperipolesis; D031249:Erdheim-Chester Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006644:Histiocytes / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010490:Pericardial Effusion / Q000175:diagnosis / Q000209:etiology; D000072078:Positron Emission Tomography Computed Tomography; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D015415:Biomarkers; D003062:Codon; D048493:Proto-Oncogene Proteins B-raf
keywords: Emperipolesis; Erdheim-Chester disease; Histiocytosis; Rosai-Dorfman disease