A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor

Samantha Gadd, Vicki Huff, Amy L. Walz, Ariadne H.A.G. Ooms, Amy E. Armstrong, Daniela S. Gerhard, Malcolm A. Smith, Jaime M. Guidry Auvil, Daoud Meerzaman, Qing Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Leandro C. Hermida, Tanja Davidsen, Patee Gesuwan, Yussanne Ma, Zusheng Zong, Andrew J. MungallRichard A. Moore, Marco A. Marra, Jeffrey S. Dome, Charles G. Mullighan, Jing Ma, David A. Wheeler, Oliver A. Hampton, Nicole Ross, Julie M. Gastier-Foster, Stefan T. Arold, Elizabeth J. Perlman

Research output: Contribution to journalArticlepeer-review

224 Scopus citations


We performed genome-wide sequencing and analyzed mRNA and miRNA expression, DNA copy number, and DNA methylation in 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously implicated in Wilms tumors (WT1, CTNNB1, AMER1, DROSHA, DGCR8, XPO5, DICER1, SIX1, SIX2, MLLT1, MYCN, and TP53), we identified mutations in genes not previously recognized as recurrently involved in Wilms tumors, the most frequent being BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1, MAP3K4, and ARID1A. DNA copy number changes resulted in recurrent 1q gain, MYCN amplification, LIN28B gain, and MIRLET7A loss. Unexpected germline variants involved PALB2 and CHEK2. Integrated analyses support two major classes of genetic changes that preserve the progenitor state and/or interrupt normal development.

Original languageEnglish
Pages (from-to)1487-1494
Number of pages8
JournalNature Genetics
Issue number10
StatePublished - Oct 1 2017


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