TNFAIP3 Mutation And Clinical Correlation In Diffuse Large B-cell Lymphoma

Objective:To analyze TNFAIP3 gene mutation and investigate its clinical correlations in diffuse large B-cell lymphoma.Methods:100 cases with complete clinical information were gathered by medical charts review. Genomic DNA was extracted from archival formalin-fixed paraffin-embedded tissue biopsies according to standard methods. Exon3,4,5 was amplified by polymerase chain reaction(PCR) and analyzed mutation by DNA direct sequencing.Results:The 5-year progression-free survival (PFS) was 53.7% in 100 patients. The 5-year PFS (p=0.048) was superior in IPI0-2 group than IPI3-5 group. Exon3 was successfully sequenced in 38 cases, exon4 was successfully sequenced in 51 cases, and exon5 was sequenced in 22 cases. The mutations detected were C493T(Q143X), A458G(K131R), G491A(W142X), A648G(I194M), A667G(N201D), G558A(W164X), GA565-566AG(E167R), G565A(E167K), G757A(G231R)。Removing cases which can not be analyzed mutation, there were 12 cases in mutation group and 18 cases in non-mutation group. The rate of mutation was 40%. The PFS was superior in the non-mutation group (p=0.02). There was no difference between mutation group and non-mutation group in terms of sex, stage, serum lactate dehydrogenase(LDH), Eastern Cooperative Oncology Group (ECOG) performance status, International Prognostic Index(IPI), response to initial treatment, relapse after complete response/partial response.Conclusions:TNFAIP3 gene may play a critical role in the pathogenesis of diffuse large B-cell lymphoma, and TNFAIP3 mutation was associated with prognosis in diffuse large B-cell lymphoma.