中枢神经系统非朗格汉斯细胞组织细胞增生症临床及病理研究

Clinicopathological study of non-Langerhans cell histiocytosis in central nervous system

目的 研究中枢神经系统非朗格汉斯细胞组织细胞增生症的临床、病理及影像学特点,探讨其诊断及鉴别诊断要点.方法 收集首都医科大学宣武医院2010-2014年10例中枢神经系统非朗格汉斯细胞组织细胞增生症[罗塞-道夫曼病7例,播散性黄色瘤3例]的临床病理资料,分析其临床病史、影像学、病理组织学、免疫表型及预后特点.结果 7例罗塞-道夫曼患者中,男5例,女2例,平均年龄46.7岁;影像学表现为形态各异的占位性病变,大部分为硬脑/脊膜受累,仅1例病变单纯发生于脑实质内,与硬脑膜无关系;MRI示病灶表现为T1低或等信号影,T2低、等或稍高信号影,增强后可见强化;镜下于慢性炎性细胞浸润及纤维化的背景中可以看到多量组织细胞分布,部分组织细胞可见“伸入”现象,免疫组化显示组织细胞表达CD11c、CD68、MAC387及S-100蛋白,不表达CD1α,其中1例同时合并IgG4相关的慢性肥厚性硬脊膜炎;随访到6例罗塞-道夫曼病患者,5例恢复良好,1例死于该病.3例播散性黄色瘤患者均为女性,中位年龄20岁;影像学显示3例均为多发病变,累及颅内不同部位,MRI均表现为T1低或等信号,T2高信号,增强后可见强化;镜下可见大量泡沫样组织细胞增生,散在Touton多核巨细胞、淋巴细胞及嗜酸性粒细胞浸润,组织细胞表达CD68及CD11c,部分表达MAC387,不表达S-100及CD1α;随访到2例播散性黄色瘤患者,1例恢复良好,1例死于该病.结论 罗塞-道夫曼病及播散性黄色瘤都具有较为典型的组织学及免疫组化特点,但应该与朗格汉斯细胞组织细胞增生症及其他非朗格汉斯细胞组织细胞增生症鉴别,还应该与和各自形态学相似的其他疾病鉴别.由于这类疾病临床表现及影像学的不典型性,临床医生与病理医生需要进行良好有效的沟通及合作,以提高诊断正确率.

Objective To explore the clinicopathological features and imaging characteristics of non-Langerhans cell histiocytosis in central nerve system,thus to facilitate the diagnosis and differential diagnosis.Methods A total of ten cases were enrolled in the study,with seven cases of Rosai-Dorfman disease（RDD） and three cases of xanthoma disseminatum （XD）.Data on the clinicopathological features,imaging,immunophenotype and prognosis were collected and analyzed.Results Seven patients with RDD,5 males and 2 females with the mean age of 46.7 years old,all presented as dural-based or intraparenchymal hypo-to isointense lesions on T1 and T2 with post-contrast enhancement.The polymorphous admixture of histiocytes,lymphocytes and plasma cells was observed in a fibrous stroma,with emperipolesis of some histiocytes.The immunohistostaining of CD11c,CD68,MAC387 and S-100 was positive in the histiocytes,while the staining of CD1α was negative.Five patients recovered after the operation,while one patient died of the disease.All the 3 XD patients were female,with the median age of 20.7 years old.All XD patients presented as multiple intraparenchymal hypointense lesions on T1 and hyperintense lesions on T2 with post-contrast enhancement.The infiltration of foam-like histiocytes,a few Touton giant cells,lymphocytes and eosnophils was observed in all XD patients.The immunohistostaining of CD68 and CD11c was positive in the histiocytes and that of MAC387 partly positive,while the staining of S-100 and CD1α was negative.One XD patient survived well,while another one died of the disease.Conclusions The diagnosis of RDD and XD should be based on their typical morphology and immunophenotype and should be differentiated from Langerhans cell histiocytosis and other non-Langerhans cell histiocytosis.Non-Langerhans cell histiocytosis in central nerve system often presents untypical clinical presentation and imaging features,thus the communication and cooperation between clinician and pathologist is needed.