Erdheim-Chester病的临床病理分析

Clinicopathological features of Erdheim-Chester disease

目的 探讨Erdheim-Chester病(ECD)的发病机制、临床病理学特征、治疗以及预后。方法 收集5例Erdheim-Chester病,对其临床、影像学特点、病理形态学和免疫组化染色特征进行分析比较,并复习相关文献。结果 5例Erdheim-Chester病中男性2例,女性3例,年龄9~66岁,中位年龄35岁。4例发生于骨,其中2例累及多骨,另1例为全身性病变,累及全身多处骨及软组织。镜下骨小梁或纤维脂肪组织间可见弥漫浸润的泡沫样组织细胞,免疫组化显示组织细胞标记物CD163、CD68(+),而CD1a、S-100、langerin以及上皮标记物AE1/AE3(-)。结论 Erdheim-Chester病是一种罕见的非朗格汉斯组织细胞增生性疾病,具有独特的病理学特征,认识这种罕见疾病,需结合临床表现、影像学特征以及病理学特点确诊。

Objective To investigate the pathogenesis,clinicopathological features,treatment and prognosis of Erdheim-Chester disease(ECD).Methods Five cases of Erdheim-Chester disease were collected.The clinical data,imaging,pathological and immunohistochemical features were analyzed,and the related literatures were reviewed.Result Among the five cases of Erdheim-Chester disease,two were males and 3 were females.The patients age ranged from 9 to 66 years,with a median age of 35 years.Four cases occurred in bone,out of which two cases involved multiple bones.The other case was a systemic lesion involving multiple bones and soft tissues.Microscopically,foamy cells diffusely infiltrated between trabecular bone or fibrous adipose tissue.Immunohistochemistry showed that foamy cells were positive for CD 163 and CD68,negative for CDla,S-100,langerin and epithelial marker AE1/AE3.Conclusion Erdheim-Chester disease is a rare non-Langerhans histiocytosis with unique pathological characteristics.It is important to recognize the rare disease.The diagnosis should be made with clinical manifestations,imaging features and pathological characteristics.