Establishment of prognostic factor(s) by analysis of genetic abnormality and elucidation of the mechanism of drug resistance in nephroblastoma

在肾母细胞瘤中，需要识别新的预后标记物以更好地制定治疗计划，以提高死亡率和复发率，并预防副作用和迟发性反应。在这项研究中，我们研究了5个基因（WT 1，CTNNB 1，WTX，TP 53和IGF 2）的遗传和表观遗传异常和3个肿瘤抑制基因（RASSF 1A，DCR 2和CASP 8）的DNA甲基化状态在日本肾母细胞瘤。Kaplan-Meier分析显示，WTX突变和RASSF 1A高甲基化与不良预后相关（分别为p=0.040和p=0.043）。尤其是WTX和TP 53突变同时存在的肾母细胞瘤患者预后较差。

In nephroblastoma, identification of new prognostic markers for better therapy planning are needed to improve the mortality and recurrence rate, and prevent side and late effects. In this study, we examined genetic and epigenetic abnormalities of the 5 genes ( WT1, CTNNB1, WTX, TP53 and IGF2) and DNA methylation status of three tumor suppressor genes ( RASSF1A, DCR2 and CASP8) in Japanese nephroblastoma. WTX mutation and RASSF1A hypermethylation was correlated with poor prognosis by Kaplan-Meier analysis (p=0.040 and p=0.043, respectively). Nephroblastoma patients with both WTX and TP53 mutation particularly showed poor prognosis.