Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan.
Pathol Oncol Res. 2020 Oct;26(4):2153-2159. doi: 10.1007/s12253-020-00802-6. Epub 2020 Mar 10.
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.
威尔姆斯瘤是最常见的小儿肾恶性肿瘤。已经有几个遗传位点被证明与它的形成有关。WT1 和 WT2 基因座的遗传或表观遗传异常与大多数散发性威尔姆斯瘤的病因有关。在我们之前的研究中，大多数威尔姆斯瘤在 WT1 基因的组成突变和体细胞突变检测中均为阴性。因此，WT2 可能在这些肿瘤中发挥重要作用。在本研究中，我们使用甲基化敏感多重连接依赖性探针扩增分析了 6 例威尔姆斯瘤中 WT2 在 11p15 的甲基化状态。由于 H19DMR 的高甲基化和 KvDMR 的低甲基化，两个具有上皮成分的威尔姆斯瘤观察到 WT2 的父系单亲二体性。我们的发现强调了检测 11p15 表观遗传异常以识别具有上皮成分的威尔姆斯瘤的好处。
