Bing-Neel综合征三例报告及文献复习  

Bing-Neel syndrome： 3 cases report and a review of the literature

作　　者：毛玥莹[1] 曹欣欣[1] 蔡昊[1] 周道斌[1] 李剑[1] 

机构地区：[1]中国医学科学院、北京协和医学院北京协和医院血液科,100730

出　　处：《中华血液学杂志》2017年第12期1049-1052,共4页Chinese Journal of Hematology

摘　　要：目的阐述Bing—Neel综合征（BNS）患者的临床特征、诊疗方法、治疗选择和转归。方法收集并分析北京协和医院诊断的3例BNS患者的临床表现、实验室检查、治疗和转归情况。结果3例BNS患者的临床表现各不相同。例1在诊断Waldenstr6m巨球蛋白血症（wM）后42个月，通过脑脊液细胞学和流式细胞术检查诊断为BNS，但在首程化疗中死于感染。例2、3wM的首发表现均为BNS，依靠脑脊液行细胞学和流式细胞术检查进行诊断，依靠行MYD88^L265P突变检测进行BNS确诊和治疗后微小残留病（MRD）的监测。例2、3均给予FC（氟达拉滨＋环磷酰胺）±R（利妥昔单抗）方案辅以鞘内注射治疗，而后以苯丁酸氮芥或R2（利妥昔单抗＋来那度胺）方案进行维持治疗；分别随访17及20个月后，病情无进展。结论BNS需结合患者脑脊液细胞学、流式细胞术和MYD88^L265P突变检测结果进行诊断。MYD88^L265P突变检测可能有助于治疗后MRD的监测。Objective To evaluate the clinical characteristics, diagnosis criteria, treatment and prognosis in patients with Bing-Neel Syndrome （BNS）. Methods The clinical characteristics, lab data, treatment and outcomes of 3 Bing-Neel syndrome patients diagnosed at Peking Union Medical College Hospital were collected. Results The clinical presentation was heterogeneous without any specific common signs or symptoms. One patient was diagnosed with BNS 42 months after diagnosis of Waldenstr6m macroglobulinemia （WM） by eerebrospinal fluid （CSF） cytology and flow cytometry, but dead of infection during the first course of chemotherapy. BNS was the first manifestation of WM in the other 2 cases. They were diagnosed by flow cytometry and cytology of CSF. The detection of MYD88^L265P mutation in CSF contributed to diagnosis and to sequential monitoring of minimal residual disease. They received systemic chemotherapy of FC （fludarabine ＋ cyclophosphamide） ± rituximab and intrathecal therapy, followed by maintenance therapy of chlorambucil or R2 （rituximab ＋ lenalidomide）. They were followed 17 and 20 months respectively without progression of disease. Conclusion The diagnosis approach of BNS should be based on a combination of CSF cytology, flow cytometry and detection of the MYD88^L265P mutation. The detection of MYD88^L265P mutation may be useful in the monitoring of minimal residual disease.

关 键 词：WALDENSTROM巨球蛋白血症 中枢神经系统 髓样分化因子88 DNA突变分析 Bing—Neel综合征 

分 类 号：R553[医药卫生—血液循环系统疾病]