Correlations between histological characterizations and methylation statuses of tumour suppressor genes in Wilms' tumours

IF 1.8 4区医学 Q3 PATHOLOGY

International Journal of Experimental Pathology Pub Date : 2022-04-18 DOI:10.1111/iep.12442

Yen-Chein Lai, Meng-Yao Lu, Wen-Chung Wang, Tai-Cheng Hou, Chen-Yun Kuo

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Abstract

Wilms' tumour is a solid tumour that frequently occurs in children. Genetic changes in WT1 and epigenetic aberrations that affect imprinted control region 1 in WT2 loci are implicated in its aetiology. Moreover, tumour suppressor genes are frequently silenced by methylation in this tumour. In the present study, we analysed the methylation statuses of promoter regions of 24 tumour suppressor genes using a methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)-based approach in 6 Wilms' tumours. Methylation of RASSF1 was specific to all 6 Wilms' tumours and was not observed in normal tissues. Moreover, methylated HIC1 was identified in stromal-type Wilms' tumours and methylated BRCA1 was identified in epithelial-type Wilms' tumours. Unmethylated CASP8, RARB, MLH1_167, APC and CDKN2A were found only in blastemal predominant-type Wilms' tumour. Our results indicated that methylation of RASSF1 may be a vital event in the tumorigenesis of Wilms' tumour, which informs its clinical and therapeutic management. In addition, mixed-type Wilms' tumours may be classified according to epithelial, stromal and blastemal components via MS-MLPA-based approach.

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Wilms肿瘤中肿瘤抑制基因的组织学特征与甲基化状态之间的相关性

威尔姆斯瘤是一种常见于儿童的实体瘤。WT1的遗传改变和影响WT2基因座上印迹控制区1的表观遗传畸变与其病因有关。此外，在这种肿瘤中，肿瘤抑制基因经常被甲基化沉默。在本研究中，我们使用基于甲基化特异性多重连接依赖探针扩增(MS-MLPA)的方法分析了6例Wilms肿瘤中24个肿瘤抑制基因启动子区域的甲基化状态。RASSF1的甲基化对所有6个Wilms肿瘤都是特异性的，在正常组织中未观察到。此外，在基质型Wilms肿瘤中发现了甲基化的HIC1，在上皮型Wilms肿瘤中发现了甲基化的BRCA1。未甲基化的CASP8、RARB、MLH1_167、APC和CDKN2A仅在胚质显性型Wilms肿瘤中发现。我们的研究结果表明，RASSF1的甲基化可能是Wilms肿瘤发生的一个重要事件，这为其临床和治疗管理提供了信息。此外，基于ms - mlpa的方法可以根据上皮、间质和胚质成分对混合型Wilms肿瘤进行分类。

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来源期刊

International Journal of Experimental Pathology 医学-病理学

CiteScore

4.50

自引率

3.30%

发文量

审稿时长

>12 weeks

期刊介绍： Experimental Pathology encompasses the use of multidisciplinary scientific techniques to investigate the pathogenesis and progression of pathologic processes. The International Journal of Experimental Pathology - IJEP - publishes papers which afford new and imaginative insights into the basic mechanisms underlying human disease, including in vitro work, animal models, and clinical research. Aiming to report on work that addresses the common theme of mechanism at a cellular and molecular level, IJEP publishes both original experimental investigations and review articles. Recent themes for review series have covered topics as diverse as "Viruses and Cancer", "Granulomatous Diseases", "Stem cells" and "Cardiovascular Pathology".