淋巴结外Rosai-Dorfman病10例临床病理及分子遗传学分析OA

Objective To investigate the clinicopathological features and molecular genetic features of extra-nodal Rosai-Dorfman disease(RDD).Methods The clinical and pathological data of 10 cases of extranodal RDD were retrospectively collected and analyzed.HE and immunohistochemical staining were performed on all of the cases,and the next-generation sequencing was carried out on 6 cases.Relevant literature was reviewed.Results Among the 10 patients,2 were male and 8 were females.The age of onset ranged from 6 to 85 years,with a median age of 50 years.Five cases occurred in the skin,2 in the breast,1 in the nasopharynx,1 in the orbit,and 1 in the an-terior mediastinum and pericardium.Eight cases were followed up without recurrence,and two cases were lost of follow-up.The lesions were irregular with a maximum diameter ranged from 1.3 to 10.0 cm.Histopathological fea-tures revealed sheets or aggregates of RDD histocytes,with/without emperipolesis,accompanied by fibrosis and lym-phocytes,plasma cells infiltrate.The immunohistochemical expressions of S-100,CD68,CD163,Cyclin D1 and OCT2 were positive in RDD histocytes.Five cases were detected with a total of 11 types of gene mutations,including MAP2K1,TSC1,FGFR2,MET,RET,KDR,CBL,APC,NTRK3,MYC and CDK4.Conclusion Extranodal RDD is relatively rare.The RDD histocytes might be masked by fibrotic and inflammatory backgrounds.The clear di-agnosis depends on the histological morphology,immunohistochemistry and molecular testing.