Methylation Statuses of H19DMR and KvDMR at WT2 in Wilms Tumors in Taiwan

Pathology oncology research: POR

article

Lu, Meng-Yao¹  Wang, Wen-Chung²  Hou, Tai-Cheng³  Kuo, Chen-Yun³  Lai, Yen-Chein⁴ 

[1] Department of Pediatrics, National Taiwan University Hospital;Department of Obstetrics and Gynecology, Jen-Ai Hospital;Department of Pathology, Jen-Ai Hospital;Department of Medical Laboratory and Biotechnology, Chung Shan Medical University;Clinical Laboratory, Chung Shan Medical University Hospital

关键词: Multiplex ligation-dependent probe amplification;    Nephroblastoma;    Paternal uniparental disomy;    Wilms tumor;   

DOI  :  10.1007/s12253-020-00802-6

来源: Springer

【 摘 要 】

Wilms tumor is the most common pediatric renal malignancy. Several genetic loci have been shown to be associated with its formation. Genetic or epigenetic aberrations at WT1 and WT2 loci have been implicated in the etiology of the majority of sporadic Wilms tumors. In our previous study, most Wilms tumors tested negative for both constitutional mutations and somatic mutations in the WT1 gene. Thus, WT2 may play an important role in these tumors. In the present study, we analyzed the methylation statuses of WT2 at 11p15 using methylation sensitive multiplex ligation-dependent probe amplification in six Wilms tumors. Paternal uniparental disomy at WT2 was observed in two Wilms tumors with epithelial components due to hypermethylation at H19DMR and hypomethylation at KvDMR. Our findings highlight the benefits of testing for 11p15 epigenetic abnormalities to identify Wilms tumors with epithelial components.

【 授权许可】

Unknown