血管免疫母T细胞淋巴瘤患者RHOA、TET2和DNMT3A基因突变率及临床特征分析

Analysis of mutation rate and clinical features of RHOA,TET2 and DNMT3A genes in patients with vascular immunological mother T-cell lymphoma

目的探讨血管免疫母T细胞淋巴瘤(AITL)患者RHOA、TET家族羟化酶2(TET2)和甲基化转移酶3A(DNMT3A)基因突变率及临床特征分析。方法应用免疫组化法检测AITL患者组织中RHOA、TET2和DNMT3A的表达。采用多重PCR扩增和测序方法分析RHOA、TET2和DNMT3A突变主要基因型。结果免疫组化结果可知,RHOA阳性表达为68.33%(41/60)、TET2阳性表达为61.67%(37/60)和DNMT3A阳性表达为70.00%(42/60)。RHOA、TET2和DNMT3A阳性表达与血管免疫母T评分明显相关,差异具有统计学意义(P<0.05)。RHOA、TET2和DNMT3A阳性表达与AITL患者性别及年龄不具有突变与血管免疫母T细胞淋巴瘤TNM分期、LDH含量、有无B症状及IPI评分明显相关,差异具有统计学意义(P<0.05)。结论 RHOA、TET2和DNMT3A突变可以作为诊断AITL的分子标志物,RHOA、TET2和DNMT3A突变可能参与调节AITL发生发展。

To analyze the mutation rate and clinical characteristics of RHOA,TET family hydroxylase 2(TET)and methyltransferase 3A(DNMT3A)in patients with angioimmuno?noblastic T cell lymphoma(AITL).Methods Immunohistochemistry was used to detect the expression of RHOA,TET2 and DNMT3A in AITL patients.The major genotypes of RHOA,TET2 and DNMT3A mutations were analyzed by multiplex PCR amplification and sequencing methods.Result Immunohistochemical results showed that RHOA positive expression was 68.33%(41/60),TET2 positive expres?sion was 61.67%(37/60)and DNMT3A positive expression was 70.00%(42/60).The positive expressions of RHOA,TET2 and DNMT3A were significantly correlated with TNM stage,LDH content,B symptoms and IPI score of angioimmunoblastic T?cell lymphoma(P<0.05).The positive expression of RHOA,TET2 and DNMT3A was not correlated with the sex and age of AITL patients(P>0.05).The mutations of RHOA,TET2 and DNMT3A were significantly correlated with TNM stage,LDH content,B symptoms and IPI score of angioimmunoblastic T?cell lymphoma(P<0.05).Conclusion RHOA,TET2 and DNMT3A mutations can be used as molecular markers for the diagnosis of AITL.RHOA,TET2 and DNMT3A mutations may be involved in the regulation of AITL development.