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KLF2 突变是脾边缘区淋巴瘤中最常见的体细胞改变,并确定了具有独特基因型的亚群。

KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype.

机构信息

Division of Molecular Histopathology, Department of Pathology, University of Cambridge, Cambridge, UK.

Institute of Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

出版信息

Leukemia. 2015 May;29(5):1177-85. doi: 10.1038/leu.2014.330. Epub 2014 Nov 27.

Abstract

To characterise the genetics of splenic marginal zone lymphoma (SMZL), we performed whole exome sequencing of 16 cases and identified novel recurrent inactivating mutations in Kruppel-like factor 2 (KLF2), a gene whose deficiency was previously shown to cause splenic marginal zone hyperplasia in mice. KLF2 mutation was found in 40 (42%) of 96 SMZLs, but rarely in other B-cell lymphomas. The majority of KLF2 mutations were frameshift indels or nonsense changes, with missense mutations clustered in the C-terminal zinc finger domains. Functional assays showed that these mutations inactivated the ability of KLF2 to suppress NF-κB activation by TLR, BCR, BAFFR and TNFR signalling. Further extensive investigations revealed common and distinct genetic changes between SMZL with and without KLF2 mutation. IGHV1-2 rearrangement and 7q deletion were primarily seen in SMZL with KLF2 mutation, while MYD88 and TP53 mutations were nearly exclusively found in those without KLF2 mutation. NOTCH2, TRAF3, TNFAIP3 and CARD11 mutations were observed in SMZL both with and without KLF2 mutation. Taken together, KLF2 mutation is the most common genetic change in SMZL and identifies a subset with a distinct genotype characterised by multi-genetic changes. These different genetic changes may deregulate various signalling pathways and generate cooperative oncogenic properties, thereby contributing to lymphomagenesis.

摘要

为了研究脾脏边缘区淋巴瘤(SMZL)的遗传学特征,我们对 16 例病例进行了全外显子组测序,发现了 Kruppel 样因子 2(KLF2)的新型复发性失活突变,该基因的缺失先前被证明会导致小鼠脾脏边缘区增生。KLF2 突变在 96 例 SMZL 中的 40 例(42%)中发现,但在其他 B 细胞淋巴瘤中很少见。大多数 KLF2 突变是移码缺失或无义改变,错义突变聚集在 C 末端锌指结构域。功能分析表明,这些突变使 KLF2 抑制 TLR、BCR、BAFFR 和 TNFR 信号诱导的 NF-κB 激活的能力失活。进一步的广泛研究揭示了 KLF2 突变阳性和阴性 SMZL 之间常见和独特的遗传变化。KLF2 突变阳性的 SMZL 主要存在 IGHV1-2 重排和 7q 缺失,而 MYD88 和 TP53 突变几乎仅见于 KLF2 突变阴性的 SMZL。NOTCH2、TRAF3、TNFAIP3 和 CARD11 突变在 KLF2 突变阳性和阴性的 SMZL 中均有观察到。总之,KLF2 突变是 SMZL 中最常见的遗传变化,确定了一组具有独特基因型的亚组,其特征是多种遗传变化。这些不同的遗传变化可能会使各种信号通路失调,并产生协同致癌特性,从而促进淋巴瘤的发生。

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