MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours

Elizabeth J. Perlman (), Samantha Gadd, Stefan T. Arold, Anand Radhakrishnan, Daniela S. Gerhard, Lawrence Jennings, Vicki Huff, Jaime M. Guidry Auvil, Tanja M. Davidsen, Jeffrey S. Dome, Daoud Meerzaman, Chih Hao Hsu, Cu Nguyen, James Anderson, Yussanne Ma, Andrew J. Mungall, Richard A. Moore, Marco A. Marra, Charles G. Mullighan, Jing Ma, David A. Wheeler, Oliver A. Hampton, Julie M. Gastier-Foster, Nicole Ross and Malcolm A. Smith
Additional contact information
Elizabeth J. Perlman: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University’s Feinberg School of Medicine
Samantha Gadd: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University’s Feinberg School of Medicine
Stefan T. Arold: King Abdullah University of Science and Technology, Computational Bioscience Research Center
Anand Radhakrishnan: King Abdullah University of Science and Technology, Computational Bioscience Research Center
Daniela S. Gerhard: Office of Cancer Genomics, National Cancer Institute
Lawrence Jennings: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University’s Feinberg School of Medicine
Vicki Huff: The University of Texas MD Anderson Cancer Center
Jaime M. Guidry Auvil: Office of Cancer Genomics, National Cancer Institute
Tanja M. Davidsen: Office of Cancer Genomics, National Cancer Institute
Jeffrey S. Dome: Children’s National Medical Center
Daoud Meerzaman: Center for Biomedical Informatics and Information Technology, National Cancer Institute, National Institutes of Health
Chih Hao Hsu: Center for Biomedical Informatics and Information Technology, National Cancer Institute, National Institutes of Health
Cu Nguyen: Center for Biomedical Informatics and Information Technology, National Cancer Institute, National Institutes of Health
James Anderson: Frontier Science and Technology Research Foundation
Yussanne Ma: Canada’s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency
Andrew J. Mungall: Canada’s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency
Richard A. Moore: Canada’s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency
Marco A. Marra: Canada’s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency
Charles G. Mullighan: St Jude Children’s Research Hospital
Jing Ma: St Jude Children’s Research Hospital
David A. Wheeler: Nationwide Children's Hospital, Ohio State University College of Medicine
Oliver A. Hampton: Nationwide Children's Hospital, Ohio State University College of Medicine
Julie M. Gastier-Foster: Baylor College of Medicine
Nicole Ross: Baylor College of Medicine
Malcolm A. Smith: Cancer Therapy Evaluation Program, National Cancer Institute

Nature Communications, 2015, vol. 6, issue 1, 1-10

Abstract: Abstract Wilms tumour is an embryonal tumour of childhood that closely resembles the developing kidney. Genomic changes responsible for the development of the majority of Wilms tumours remain largely unknown. Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. The mutant MLLT1 protein shows altered binding to acetylated histone tails. Moreover, MLLT1-mutant tumours show an increase in MYC gene expression and HOX dysregulation. Patients with MLLT1-mutant tumours present at a younger age and have a high prevalence of precursor intralobar nephrogenic rests. These data support a model whereby activating MLLT1 mutations early in renal development result in the development of Wilms tumour.

Date: 2015
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DOI: 10.1038/ncomms10013

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