Rosai-Dorfman病:23例临床病理及全基因组外显子测序分析  

Rosai-Dorfman disease:a clinicopathologic analysis and whole exome sequencing in 23 cases

作　　者：傅维佳 杜鹃[2] 卢静[2] 王良哲[3] 杨建民[1] 何妙侠[4] 胡晓霞[1] Fu Weijia;Du Juan;Lu Jing;Wang Liangzhe;Yang Jianmin;He Miaoxia;Hu Xiaoxia(Department of Hematology,Changhai Hospital,the Second Military Medical University;Institute ofHematologic Disease of Chinese PLA,Shanghai200433,China;Department of Hematology,Institute ofHematology,Changzheng Hospital,Shangai200003,China;Department of Pathology,ChanghaiHospital,Shangai200433,China;Department of Pathology,Changzheng Hospital,Shangai200003,China)

机构地区：[1]第二军医大学附属长海医院血液科、中国人民解放军血液病研究所,上海200433 [2]第二军医大学附属长征医院血液科,上海200003 [3]第二军医大学附属长征医院病理科,上海200003 [4]第二军医大学附属长海医院病理科,上海200433

出　　处：《中华血液学杂志》2019年第8期656-661,共6页Chinese Journal of Hematology

基　　金：上海市卫生健康委员会卫生系统优秀学科带头人培养计划(2017BR012).

摘　　要：目的 分析Rosai-Dorfman disease(RDD)的临床病理特征,利用全基因组外显子测序探讨RDD的发病机制.方法 回顾性分析第二军医大学附属长海医院、长征医院2010年1月至2018年7月收治的23例RDD患者临床病理资料,并对9例患者石蜡包埋组织标本进行了全基因组外显子测序.结果 23例RDD患者中位年龄47(10~79)岁,19例为结外型,3例为淋巴结型,1例为混合型.所有患者均接受了手术切除病灶,19例患者中位随访24(1~67)个月,均无复发.病理形态主要表现为淋巴结窦内或结外组织中组织细胞增生伴有噬淋巴细胞现象,免疫组化示组织细胞表达S100、CD68、CD163,不表达CD1a.全基因组外显子测序发现mTOR、KMT2D和NOTCH1基因突变.结论 mTOR、KMT2D和NOTCH1基因突变可能参与了RDD的发病机制,其临床意义仍需要进一步研究.Objective To evaluate the clinicopathologic features of Rosai-Dorfman disease(RDD),and elucidate the potential pathogenesis by whole exome sequencing(WES).Methods Clinico-pathological data of 23 RDD patients diagnosed between 2010 and 2018 in Changhai hospital were reviewed,and 9 paraffin-embedded specimens were performed for WES.Results The median age of 23 RDD patients was 47(10-79)years.Of them,19 cases had extranodal lesions,3 had nodal lesions,and 1 had nodal and extranodal lesions coincidently.All patients received surgery for lesion resection.Histiocytosis in lymph node sinuses or in extranodal tissues accompanied by lymphocyte phagocytosis are typical pathological features of RDD.Immunohistochemical staining shows histocytes are positive for S100,CD68 and CDl63,and negative for CD1a.mTOR,KMT2D and NOTCH1 mutations were detected with WES in these cases.Conclusion Mutations in mTOR,KMT2D and NOTCH1 genes may be involved in the pathogenesis of RDD,and their clinical significance needs to be further studied.

关 键 词：组织细胞增生 免疫组织化学 全基因组外显子测序 

分 类 号：R73[医药卫生—肿瘤]