Chinese Erdheim-Chester disease: clinical-pathology-PET/CT updates

[摘要] Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, has been rarely seen and ischaracterized by the accumulation of foamy CD68CCD1a- histiocytes. We reported a case of ECD and reviewed the clinicalfeatures of 13 cases of ECD reported so far in China. A 53-year-old male was diagnosed with central diabetes insipidus inMarch 2014, followed by fever, splenomegaly and anemia in July 2014. His initial pituitary magnetic resonance imaging (MRI)revealed the absence of high signal at T1-weighted image in posterior pituitary without any lesion. A further positronemission tomography/computer tomography (PET/CT) images showed elevated metabolic activity of 18F-2-fluro-D-deoxyglucose (FDG) and low 13N-NH3 uptake in the posterior pituitary, and multi-organ involvement. Biopsy at right femur lesionrevealed that granulomatous infiltration of foamy histiocytes and Touton giant cells surrounded by fibrosis tissues.Immunohistochemistry stain was positive for CD68, negative for CD207/Langerin and S-100. The diagnosis of ECD wasconfirmed and the treatment with pegylated interferon was effective. ECD was a possible immune-related disorderconcluding from the IgG4 immunohistochemistry results. We summarized the pathological manifestations for ECD and itsdifferential diagnosis from Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD). ECD should be considered byboth pathologists and clinicians in the differential diagnosis when central diabetes insipidus is accompanied with multiorgan involvement, especially skeletal system involvement, or recurrent fever.

[学科分类] 血液学

[关键词] Adult;Male;Asian - Chinese;China;Bone;Pituitary;Neuroendocrinology;Diabetes insipidus - neurogenic/central;Histiocytosis;Pyrexia;Polydipsia;Polyuria;Chills;Sweating;Splenomegaly;Anaemia;Bone lesions;MRI scan;Ultrasound scan;Bone biopsy;Immunohistochemistry;Histopathology;PET scan;CT scan;Urine osmolality;Water deprivation;Haemoglobin;Immunoglobulin G4;IgG4/IgG ratio;Immunoglobulin G;Immunoglobulin M;Immunoglobulin A;Interferon;Desmopressin;Pathology;Novel diagnostic procedure;October;2015