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基因因同伴而知名:在表达 IGHV4-34 抗原受体的 MALT 淋巴瘤中富集 TNFAIP3 基因异常。

A gene is known by the company it keeps: enrichment of TNFAIP3 gene aberrations in MALT lymphomas expressing IGHV4-34 antigen receptors.

机构信息

Institute of Applied Biosciences, CERTH, The Centre for Research and Technology Hellas, Thessaloniki, Greece.

出版信息

J Pathol. 2017 Dec;243(4):403-406. doi: 10.1002/path.4982. Epub 2017 Nov 1.

Abstract

Associations between immunoglobulin (IG) receptors with distinctive immunogenetic features and particular gene mutations are a recurring theme in mature B-cell lymphomas. Relevant observations have been made in chronic lymphocytic leukemia (CLL), where gene mutations are distributed asymmetrically in cases bearing or not somatic hypermutations within the clonotypic immunoglobulin heavy chain variable region (IGHV) genes (e.g. TP53 mutations predominate in IG-unmutated CLL, whereas the opposite is seen for MYD88 mutations, enriched in IG-mutated CLL) and in subsets of cases with stereotyped IG (enrichment for SF3B1 mutations in CLL subset #2). Moreover, similar findings have been reported in splenic marginal-zone lymphoma, where KLF2 mutations are biased to cases expressing IGHV1-2*04 IG receptors, and in hairy cell leukemia, where IGHV4-34-expressing cases display a low frequency of BRAF mutations but a high frequency of MAP2K1 mutations. The list is now growing with the report of increased frequency of inactivating mutations in the TNFAIP3 gene in MALT lymphomas expressing IG receptors encoded by the IGHV4-34 gene, particularly of the ocular adnexa. Considering that TNFAIP3 encodes a negative regulator of NF-κB, this finding further highlights the importance of NF-κB pathway activation in the natural history of MALT lymphomas. Altogether, these findings allude to selection of genomic aberrations in lymphoma cases with distinctive immune signaling profiles linked to the expression of particular IG receptors. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

摘要

免疫球蛋白 (IG) 受体与独特免疫遗传特征和特定基因突变之间的关联是成熟 B 细胞淋巴瘤的一个反复出现的主题。在慢性淋巴细胞白血病 (CLL) 中已经观察到相关观察结果,其中基因突变为不对称分布,在携带或不携带克隆型免疫球蛋白重链可变区 (IGHV) 基因体细胞高频突变的情况下(例如,TP53 突变在 IG 未突变的 CLL 中占主导地位,而 MYD88 突变则相反,在 IG 突变的 CLL 中富集)和具有定型 IG 的亚组病例中(在 CLL 亚组 #2 中富集 SF3B1 突变)。此外,在脾边缘区淋巴瘤中也报道了类似的发现,其中 KLF2 突变偏向于表达 IGHV1-2*04 IG 受体的病例,在毛细胞白血病中,表达 IGHV4-34 的病例中 BRAF 突变的频率较低,但 MAP2K1 突变的频率较高。随着报告在表达 IGHV4-34 基因的 IG 受体的 MALT 淋巴瘤中 TNFAIP3 基因失活突变频率增加,该列表现在正在增加,特别是在眼部附属物中。考虑到 TNFAIP3 编码 NF-κB 的负调节剂,这一发现进一步强调了 NF-κB 途径激活在 MALT 淋巴瘤自然史中的重要性。总而言之,这些发现都暗示了在具有独特免疫信号特征的淋巴瘤病例中选择基因组异常,这些特征与特定 IG 受体的表达有关。版权所有©2017 英国和爱尔兰病理学学会。由 John Wiley & Sons,Ltd. 出版。

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