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携带RHOA p.Gly17Val突变的血管免疫母细胞性T细胞淋巴瘤具有典型的临床和病理特征。

Angioimmunoblastic T-cell Lymphomas With the RHOA p.Gly17Val Mutation Have Classic Clinical and Pathologic Features.

作者信息

Ondrejka Sarah L, Grzywacz Bartosz, Bodo Juraj, Makishima Hideki, Polprasert Chantana, Said Jonathan W, Przychodzen Bartlomiej, Maciejewski Jaroslaw P, Hsi Eric D

机构信息

*Department of Laboratory Medicine †Translational Hematology and Oncology Research, Cleveland Clinic, Cleveland, OH ‡Department of Pathology and Laboratory Medicine, UCLA Medical Center, Los Angeles, CA.

出版信息

Am J Surg Pathol. 2016 Mar;40(3):335-41. doi: 10.1097/PAS.0000000000000555.

Abstract

Angioimmunoblastic T-cell lymphoma (AITL) is a nodal-based mature T-cell lymphoma with distinctive clinical symptomatology and histology. Research into its pathogenesis supports a cellular derivation from follicular helper T cells and overexpression of genes related to B cells, follicular dendritic cells, and vascular growth. Recently, a novel recurring somatic mutation in RHOA, encoding p.Gly17Val, was discovered in nearly 70% of AITLs and in a smaller proportion of peripheral T-cell lymphomas, not otherwise specified (PTCL-NOS). We investigated a series of AITLs to compare RHOA mutated with wild-type case for clinicopathologic differences. Targeted exome and Sanger sequencing was performed on 27 AITLs and 10 PTCL-NOS. The RHOA G17V mutation was identified in 63% of the AITL cases and in none of the PTCL-NOS cases. The median variant allelic frequency was 14%, with a range of 0.4 to 50% in positive cases. RHOA G17V-mutated cases had a significantly higher incidence of splenomegaly and B symptoms at diagnosis, but there was no difference in overall survival between mutated and wild-type subgroups. Cases with the RHOA G17V mutation had a significantly higher mean microvessel density (P<0.01) and expressed a greater number of follicular helper T-cell markers (P<0.05) than wild-type cases. RHOA G17V is present in a significant proportion of angioimmunoblastic lymphomas and is associated with classic pathologic features of AITL. Additional studies are needed to provide a biological or functional link between altered RHOA function and these pathologic features.

摘要

血管免疫母细胞性T细胞淋巴瘤(AITL)是一种基于淋巴结的成熟T细胞淋巴瘤,具有独特的临床症状和组织学特征。对其发病机制的研究支持其细胞来源于滤泡辅助性T细胞,并存在与B细胞、滤泡树突状细胞和血管生成相关的基因过表达。最近,在近70%的AITL以及一小部分未另行指定的外周T细胞淋巴瘤(PTCL-NOS)中发现了一种新的RHOA体细胞复发突变,编码p.Gly17Val。我们研究了一系列AITL,比较RHOA突变型与野生型病例的临床病理差异。对27例AITL和10例PTCL-NOS进行了靶向外显子组和桑格测序。在63%的AITL病例中鉴定出RHOA G17V突变,而在PTCL-NOS病例中均未发现。变异等位基因频率中位数为14%,阳性病例范围为0.4%至50%。RHOA G17V突变病例在诊断时脾肿大和B症状的发生率显著更高,但突变亚组与野生型亚组的总生存率无差异。与野生型病例相比,RHOA G17V突变病例的平均微血管密度显著更高(P<0.01),且表达更多的滤泡辅助性T细胞标志物(P<0.05)。RHOA G17V存在于相当比例的血管免疫母细胞性淋巴瘤中,并与AITL的经典病理特征相关。需要进一步研究以提供RHOA功能改变与这些病理特征之间的生物学或功能联系。

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