Ondrejka Sarah L, Grzywacz Bartosz, Bodo Juraj, Makishima Hideki, Polprasert Chantana, Said Jonathan W, Przychodzen Bartlomiej, Maciejewski Jaroslaw P, Hsi Eric D
*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.
Am J Surg Pathol. 2016 Mar;40(3):335-41. doi: 10.1097/PAS.0000000000000555.
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.
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。