Embryonal precursors of Wilms tumor

被引：103

作者：

Coorens, Tim H. H. ^{[1
]}

Treger, Taryn D. ^{[1
,2
,3
]}

Al-Saadi, Reem ^{[4
,5
]}

Moore, Luiza ^{[1
,2
]}

Tran, Maxine G. B. ^{[6
,7
]}

Mitchell, Thomas J. ^{[1
,2
,8
]}

Tugnait, Suzanne ^{[4
]}

Thevanesan, Christine ^{[4
]}

Young, Matthew D. ^{[1
]}

Oliver, Thomas R. W. ^{[1
,2
,9
]}

Oostveen, Minou ^{[4
,5
]}

Collord, Grace ^{[1
,2
,3
]}

Tarpey, Patrick S. ^{[2
]}

Cagan, Alex ^{[1
]}

Hooks, Yvette ^{[1
]}

Brougham, Mark ^{[10
]}

Reynolds, Ben C. ^{[11
]}

Barone, Giuseppe ^{[5
]}

Anderson, John ^{[4
,5
]}

Jorgensen, Mette ^{[5
]}

Burke, G. A. Amos ^{[2
,3
]}

Visser, Johannes ^{[2
]}

Nicholson, James C. ^{[2
,3
]}

Smeulders, Naima ^{[5
]}

Mushtaq, Imran ^{[5
]}

Stewart, Grant D. ^{[2
,8
]}

Campbell, Peter J. ^{[1
]}

Wedge, David C. ^{[12
,13
]}

Martincorena, Inigo ^{[1
]}

Rampling, Dyanne ^{[5
]}

Hook, Liz ^{[2
,9
]}

Warren, Anne Y. ^{[2
,9
]}

Coleman, Nicholas ^{[2
,9
]}

Chowdhury, Tanzina ^{[5
]}

Sebire, Neil ^{[4
,5
]}

Drost, Jarno ^{[14
]}

Saeb-Parsy, Kourosh ^{[2
,8
]}

Stratton, Michael R. ^{[1
]}

Straathof, Karin ^{[4
,5
]}

Pritchard-Jones, Kathy ^{[4
,5
]}

Behjati, Sam ^{[1
,2
,3
]}

机构：

[1] Wellcome Sanger Inst, Hinxton CB10 1SA, England

[2] Cambridge Univ Hosp NHS Fdn Trust, Cambridge CB2 0QQ, England

[3] Univ Cambridge, Dept Paediat, Cambridge CB2 0QQ, England

[4] UCL Great Ormond St Inst Child Hlth, London WC1N 1EH, England

[5] Great Ormond St Hosp Children NHS Fdn Trust, London WC1N 3JH, England

[6] Royal Free Hosp, UCL Div Surg & Intervent Sci, London NW3 2PS, England

[7] Royal Free Hosp, Specialist Ctr Kidney Canc, London NW3 2PS, England

[8] Univ Cambridge, Dept Surg, Cambridge CB2 0QQ, England

[9] Univ Cambridge, Dept Pathol, Cambridge CB2 1QP, England

[10] Royal Hosp Sick Children, Dept Haematol & Oncol, Edinburgh EH9 1LF, Midlothian, Scotland

[11] Royal Hosp Children, Dept Paediat Nephrol, Glasgow G51 4TF, Lanark, Scotland

[12] Univ Oxford, Big Data Inst, Oxford OX3 7LF, England

[13] John Radcliffe Hosp, Oxford NIHR Biomed Res Ctr, Oxford OX3 9DU, England

[14] Princess Maxima Ctr Pediat Oncol, Oncode Inst, NL-3584 CS Utrecht, Netherlands

来源：

SCIENCE | 2019年 / 366卷 / 6470期

关键词：

SOMATIC MUTATIONS; H19; LOCUS; EXPRESSION; LANDSCAPE; SUBTYPES; REVEAL; KIDNEY;

D O I：

10.1126/science.aax1323

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Adult cancers often arise from premalignant clonal expansions. Whether the same is true of childhood tumors has been unclear. To investigate whether Wilms tumor (nephroblastoma; a childhood kidney cancer) develops from a premalignant background, we examined the phylogenetic relationship between tumors and corresponding normal tissues. In 14 of 23 cases studied (61%), we found premalignant clonal expansions in morphologically normal kidney tissues that preceded tumor development. These clonal expansions were defined by somatic mutations shared between tumor and normal tissues but absent from blood cells. We also found hypermethylation of the H19 locus, a known driver of Wilms tumor development, in 58% of the expansions. Phylogenetic analyses of bilateral tumors indicated that clonal expansions can evolve before the divergence of left and right kidney primordia. These findings reveal embryonal precursors from which unilateral and multifocal cancers develop.

引用

页码：1247 / +

页数：32

共 30 条

[1] Acute retinal hemorrhage after Pipeline embolization device placement for treatment of ophthalmic segment aneurysm: A case report [J].

Adeeb, Nimer ;

Moore, Justin ;

Griessenauer, Christoph J. ;

Gupta, Raghav ;

Fazelat, Ahad A. ;

Ogilvy, Christopher S. ;

Thomas, Ajith J. .

INTERVENTIONAL NEURORADIOLOGY, 2018, 24 (04) :383-386

[2] HTSeq-a Python']Python framework to work with high-throughput sequencing data [J].

Anders, Simon ;

Pyl, Paul Theodor ;

Huber, Wolfgang .

BIOINFORMATICS, 2015, 31 (02) :166-169

[3] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].

Ardlie, Kristin G. ;

DeLuca, David S. ;

Segre, Ayellet V. ;

Sullivan, Timothy J. ;

Young, Taylor R. ;

Gelfand, Ellen T. ;

Trowbridge, Casandra A. ;

Maller, Julian B. ;

Tukiainen, Taru ;

Lek, Monkol ;

Ward, Lucas D. ;

Kheradpour, Pouya ;

Iriarte, Benjamin ;

Meng, Yan ;

Palmer, Cameron D. ;

Esko, Tonu ;

Winckler, Wendy ;

Hirschhorn, Joel N. ;

Kellis, Manolis ;

MacArthur, Daniel G. ;

Getz, Gad ;

Shabalin, Andrey A. ;

Li, Gen ;

Zhou, Yi-Hui ;

Nobel, Andrew B. ;

Rusyn, Ivan ;

Wright, Fred A. ;

Lappalainen, Tuuli ;

Ferreira, Pedro G. ;

Ongen, Halit ;

Rivas, Manuel A. ;

Battle, Alexis ;

Mostafavi, Sara ;

Monlong, Jean ;

Sammeth, Michael ;

Mele, Marta ;

Reverter, Ferran ;

Goldmann, Jakob M. ;

Koller, Daphne ;

Guigo, Roderic ;

McCarthy, Mark I. ;

Dermitzakis, Emmanouil T. ;

Gamazon, Eric R. ;

Im, Hae Kyung ;

Konkashbaev, Anuar ;

Nicolae, Dan L. ;

Cox, Nancy J. ;

Flutre, Timothee ;

Wen, Xiaoquan ;

Stephens, Matthew .

SCIENCE, 2015, 348 (6235) :648-660

[4] Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays [J].

Aryee, Martin J. ;

Jaffe, Andrew E. ;

Corrada-Bravo, Hector ;

Ladd-Acosta, Christine ;

Feinberg, Andrew P. ;

Hansen, Kasper D. ;

Irizarry, Rafael A. .

BIOINFORMATICS, 2014, 30 (10) :1363-1369

[5] Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma [J].

Behjati, Sam ;

Tarpey, Patrick S. ;

Haase, Kerstin ;

Ye, Hongtao ;

Young, Matthew D. ;

Alexandrov, Ludmil B. ;

Farndon, Sarah J. ;

Collord, Grace ;

Wedge, David C. ;

Martincorena, Inigo ;

Cooke, Susanna L. ;

Davies, Helen ;

Mifsud, William ;

Lidgren, Mathias ;

Martin, Sancha ;

Latimer, Calli ;

Maddison, Mark ;

Butler, Adam P. ;

Teague, Jon W. ;

Pillay, Nischalan ;

Shlien, Adam ;

McDermott, Ultan ;

Futreal, P. Andrew ;

Baumhoer, Daniel ;

Zaikova, Olga ;

Bjerkehagen, Bodil ;

Myklebost, Ola ;

Amary, M. Fernanda ;

Tirabosco, Roberto ;

Van Loo, Peter ;

Stratton, Michael R. ;

Flanagan, Adrienne M. ;

Campbell, Peter J. .

NATURE COMMUNICATIONS, 2017, 8

[6] Genome sequencing of normal cells reveals developmental lineages and mutational processes [J].

Behjati, Sam ;

Huch, Meritxell ;

van Boxtel, Ruben ;

Karthaus, Wouter ;

Wedge, David C. ;

Tamuri, Asif U. ;

Martincorena, Inigo ;

Petljak, Mia ;

Alexandrov, Ludmil B. ;

Gundem, Gunes ;

Tarpey, Patrick S. ;

Roerink, Sophie ;

Blokker, Joyce ;

Maddison, Mark ;

Mudie, Laura ;

Robinson, Ben ;

Nik-Zainal, Serena ;

Campbell, Peter ;

Goldman, Nick ;

van de Wetering, Marc ;

Cuppen, Edwin ;

Clevers, Hans ;

Stratton, Michael R. .

NATURE, 2014, 513 (7518) :422-+

[7] CONTROLLING THE FALSE DISCOVERY RATE - A PRACTICAL AND POWERFUL APPROACH TO MULTIPLE TESTING [J].

BENJAMINI, Y ;

HOCHBERG, Y .

JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY, 1995, 57 (01) :289-300

[8] JBrowse: a dynamic web platform for genome visualization and analysis [J].

Buels, Robert ;

Yao, Eric ;

Diesh, Colin M. ;

Hayes, Richard D. ;

Munoz-Torres, Monica ;

Helt, Gregg ;

Goodstein, David M. ;

Elsik, Christine G. ;

Lewis, Suzanna E. ;

Stein, Lincoln ;

Holmes, Ian H. .

GENOME BIOLOGY, 2016, 17

[9] Comparative methylome analysis identifies new tumour subtypes and biomarkers for transformation of nephrogenic rests into Wilms tumour [J].

Charlton, Jocelyn ;

Williams, Richard D. ;

Sebire, Neil J. ;

Popov, Sergey ;

Vujanic, Gordan ;

Chagtai, Tasnim ;

Alcaide-German, Marisa ;

Morris, Tiffany ;

Butcher, Lee M. ;

Guilhamon, Paul ;

Beck, Stephan ;

Pritchard-Jones, Kathy .

GENOME MEDICINE, 2015, 7

[10] The use of confidence or fiducial limits illustrated in the case of the binomial. [J].

Clopper, CJ ;

Pearson, ES .

BIOMETRIKA, 1934, 26 :404-413

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