11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Elise M FialaMichael V OrtizJennifer A KennedyDominik GlodzikMegan Harlan FleischutKelly A DuffyEvan R HathawayTodd HeatonJustin T GerstlePeter SteinherzNeerav ShuklaNicole McNeerKaitlyn TkachukNancy BouvierKaren CadooMaria I CarloAlicia J LathamMarianne Dubard GaultJoseph VijaiYelena KemelAlex KentsisZsofia StadlerMichael P LaQuagliaElli PapaemmanuilDanielle Novetsky FriedmanArupa GangulyAndrew KungKenneth OffitJennifer M KalishMichael F WalshPublished in: Cancer (2020)
Overall, 33% of patients (8 of 24 patients) with Wilms tumor or hepatoblastoma were found to have an epigenetic susceptibility that was detectable in the blood. It is interesting to note that low-level gain of methylation at imprinting control 1 predominantly was detected in females with bilateral Wilms tumors. Further studies in larger cohorts are needed to determine the efficacy of testing all patients with Wilms tumor or hepatoblastoma for 11p15.5 epimutations in the blood as part of DNA analysis because this hallmark of predisposition will not be detected by sequencing-based approaches and detecting a cancer predisposition may modify treatment.