Methylation Statuses of H19DMR and KvDMR at WT2 in Wilms Tumors in Taiwan
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ORIGINAL ARTICLE
Methylation Statuses of H19DMR and KvDMR at WT2 in Wilms Tumors in Taiwan Meng-Yao Lu 1 & Wen-Chung Wang 2 & Tai-Cheng Hou 3 & Chen-Yun Kuo 3 & Yen-Chein Lai 4,5 Received: 14 October 2019 / Accepted: 4 March 2020 # Arányi Lajos Foundation 2020
Abstract 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. Keywords Multiplex ligation-dependent probe amplification . Nephroblastoma . Paternal uniparental disomy . Wilms tumor
Abbreviations DMR differentially methylated region DNA deoxyribonucleic acid IC imprinting center MAPK mitogen-activated protein kinase M S methylation sensitive multiplex ligationMLPA dependent probe amplification UV-VIS ultraviolet–visible
Background Wilms tumor, or nephroblastoma, is an embryonal tumor of the kidney. It is the most frequently occurring solid tumor of childhood, excluding brain tumors [1–3]. The genetic makeup of Wilms tumor is diverse and involves approximately 40 genes [4]. Genes previously implicated in Wilms tumors include WT1, CTNNB1, FAM123B, DROSHA, DGCR8, XPO5, DICER1, SIX1, SIX2, MLLT1, MYCN, and TP53 [5]. In addition, BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1,
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12253-020-00802-6) contains supplementary material, which is available to authorized users. * Yen-Chein Lai [email protected]
1
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Meng-Yao Lu [email protected]
2
Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan
Wen-Chung Wang [email protected]
3
Department of Pathology, Jen-Ai Hospital, Taichung, Taiwan
4
Department of Medical Laboratory and Biotechnology, Chung Shan Medical University, No.110, Sec. 1, Chien Kuo N. Road, Taichung 402, Taiwan
5
Clinical Laboratory, Chung Shan Medical University Hospital, Taichung, Taiwan
Tai-Cheng Hou [email protected] Chen-Yun Kuo [email protected]
M.-Y. Lu et al.
MAP3K4, and ARID1A have been identified on wholegenome and whole-exome sequencing of 117 Wilms tumors [6]. More recently, four new Wilms tumor predisposition genes have been reported: TRIM28, FBXW7, NYNRIN, and KDM3B [7]. Among them, WT1
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