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

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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.