Rosai-Dorfman病12例临床病理及分子特征  

Clinicopathological and molecular characteristics of Rosai-Dorfman disease:report of twelve cases

作　　者：王清扬 王晓伟[2] 钟定荣 WANG Qing-yang;WANG Xiao-wei;ZHONG Ding-rong(Graduate School of Peking Union Medical College,Beijing 100006,China;Department of Pathology,China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]北京协和医学院研究生院,北京100006 [2]中日友好医院病理科,北京100029

出　　处：《临床与实验病理学杂志》2022年第9期1056-1061,共6页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特征、免疫表型及分子改变。方法收集2012年6月~2020年12月中日友好医院会诊及收治的12例RDD的临床病理资料,分析其组织病理学特点并行免疫组化染色,利用二代测序技术进行基因检测。结果12例RDD中,男女比为2∶1,平均年龄40岁(8~80岁)。所有患者以发现占位性病变或出现临床症状就诊并接受手术切除治疗,7例患者术后接受激素冲击治疗。9例获得随访,其中3例无复发,4例复发,1例活检病例缓解,1例不典型病例死亡。RDD镜下可见显著增生的组织细胞,周边见大量浆细胞、淋巴细胞浸润,成片的组织细胞与成片的淋巴浆细胞呈交替的“暗区”和“亮区”分布,病变的组织细胞胞质中可观察到炎细胞“伸入现象”;病变性组织细胞CD68、S-100、Cyclin D1阳性。3例检测到基因突变,包括MAP2K1、NTRK1、KRAS、FGFR3、TSC1、NF2。结论RDD具有独特组织病理学及免疫表型特征,激素治疗有效,有复发倾向和自限性,MAP2K1、NTRK1、KRAS、FGFR3、TSC1、TSC2、NF2基因突变可能参与其发病过程。Purpose To investigate the clinicopathological features,immunohistochemical expression and gene mutations of Rosai-Dorfman disease(RDD).Methods The clinicopathological data of 12 patients were collected from June 2012 to December 2020 in China-Japan Friendship Hospital.Histopathological characteristics were analyzed and immunohistochemical staining was performed,and the gene was detected by hybridization capture-based next-generation sequencing(NGS).Results The male to female ratio was 2∶1,with an average age of 40 years(8-80 years).All patients underwent surgical resection,7 patients received postoperative hormone therapy.The median follow-up time of 9 cases was 37 months(7-109 months),of which 3 cases recovered,4 cases relapsed,1 biopsy case resolved and 1 atypical case died.The histological features were marked proliferation of histocytes,plasma cells and lymphocytes infiltrated around and inflammatory cells were observed in the cytoplasm of histocytes.CD68,S-100 and Cyclin D1 were positively expressed in the histocytes.Three patients had gene mutations,including MAP2K1,NTRK1,KRAS,FGFR3,TSC1 and NF2.Conclusion RDD has unique pathological morphological characteristics and immunohistochemical expression.Hormone therapy is effective,but there is recurrence tendency and self-limiting.Mutations of MAP2K1,NTRK1,KRAS,FGFR3,TSC1,TSC2 and NF2 genes may be involved in the pathogenesis.

关 键 词：组织细胞病 ROSAI-DORFMAN病 免疫组织化学 二代测序技术 

分 类 号：R551.1[医药卫生—血液循环系统疾病]