Clinical Features And Fas、faslg、sh2D1A、Xiap Gene Analysis In5Children Of Lymphoproliferative Disorders

Objective:In this study we investigated clinical features of5lymphoproliferative disorders children,also analysised their FAS、FASLG、 SH2D1A、XIAP genes and the relation between their clinical features and gene mutation.Method:(1)5cases of fever with unclear reason and with unexplained hepatomegaly and/or splenomegaly were collected from2008to2011in our hospital.And2of them meet the clinical diagnostic criteria of hemophagocytic lymphohistiocytosis syndrome(HLH) but with no good HLH treatment effect.(2)Genomic DNA was extracted with blood genomic DNA extraction kit.(3)The mutations of FAS、FASLG、SH2D1A、XIAP genes were determined by polymerase chain reaction (PCR) and sequence.(4)We also collected relevant datas of5children to analyze their clinical features.Result:A total of5patients with the FAS、FASLG、SH2D1A、XIAP genes were successfully amplified, and4cases of mutation were detected in FAS gene. No mutation was found in FASLG、SH2D1A、XIAP genes of5children.Conclusion:(1)There is a considerable part of the FAS gene mutations that present HLH clinically.(2)There may be some relationship between the severity of clinical symptoms and mutation type of FAS gene.(3)FAS gene mutations with HLH clinical manifestation may have a poor prognosis, and HLH-2004chemotherapy may get a temporary relief but easy to relapse after stopping therapy, which suggests that stem cell transplantation may be necessary for treatment.