Stratification of wilms tumor by genetic and epigenetic analysis

Oncotarget

Volumn 3, Issue 3, 2012, Pages 327-335

  Scott, Richard H ^a   Murray, Anne ^a   Baskcomb, Linda ^b   Turnbull, Clare ^a   Loveday, Chey ^a   Al Saadi, Reem ^a   Williams, Richard ^a   Breatnach, Fin ^c   Gerrard, Mary ^d   Hale, Juliet ^e   Kohler, Janice ^f   Lapunzina, Pablo ^g   Levitt, Gill A ^h   Picton, Sue ⁱ   Pizer, Barry ^j   Ronghe, Milind D ^k   Traunecker, Heidi ^l   Williams, Denise ^m   Kelsey, Anna ⁿ   Vujanic, Gordan M ^o   Sebire, Neil J ^h   Grundy, Paul ^p   Stiller, Charles A ^q   Pritchard Jones, Kathy ^a,r   Douglas, Jenny ^a   Rahman, Nazneen ^a   more..

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e ROYAL VICTORIA INFIRMARY   (United Kingdom)

^f SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^g HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^j ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^k ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^l CHILDREN S HOSPITAL FOR WALES   (United Kingdom)

^m CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁿ ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^o CARDIFF UNIVERSITY   (United Kingdom)

^p STOLLERY CHILDREN S HOSPITAL   (Canada)

^q UNIVERSITY OF OXFORD   (United Kingdom)

^r UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

11p15; CTNNB1; Epigenetic; Somatic genetic mutation; TP53; Wilms tumor; WT1; WTX

Indexed keywords

FAM123B PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ALGORITHM; ARTICLE; CANCER STAGING; CARCINOMA; CHROMOSOME 11; CHROMOSOME ABERRATION; CLASSIFICATION; CLUSTER ANALYSIS; EPIGENETICS; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC PROCEDURES; GENETICS; HUMAN; INFANT; KIDNEY TUMOR; MALE; METHODOLOGY; MUTATION; NEPHROBLASTOMA; PATHOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; TUMOR SUPPRESSOR GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALGORITHMS; CARCINOMA; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; CLUSTER ANALYSIS; EPIGENOMICS; FEMALE; GENE FREQUENCY; GENES, WILMS TUMOR; GENETIC LOCI; GENETIC TECHNIQUES; HUMANS; INFANT; KIDNEY NEOPLASMS; MALE; MUTATION; NEOPLASM STAGING; TUMOR SUPPRESSOR PROTEINS; WILMS TUMOR;

EID: 84865681472     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.468     Document Type: Article

References (37)

1. Stiller CA, Parkin DM. International variations in the incidence of childhood renal tumours. Br J Cancer. 1990; 62:1026-1030.
2. Breslow NE, Olson J, Moksness J, Beckwith JB, Grundy P. Familial Wilms' tumor: a descriptive study. Med Pediatr Oncol. 1996; 27:398-403.
3. Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet. 2006; 43:705-715.
4. Bardeesy N, Falkoff D, Petruzzi MJ, Nowak N, Zabel B, Adam M, Aguiar MC, Grundy P, Shows T, Pelletier J. Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. Nat Genet. 1994; 7:91-97.
5. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell. 1990; 60:509-520.
6. Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature. 1990; 343:774-778.
7. Koesters R, Ridder R, Kopp-Schneider A, Betts D, Adams V, Niggli F, Briner J, von Knebel Doeberitz M. Mutational activation of the beta-catenin proto-oncogene is a common event in the development of Wilms' tumors. Cancer Res. 1999; 59:3880-3882.
8. Malkin D, Sexsmith E, Yeger H, Williams BR, Coppes MJ. Mutations of the p53 tumor suppressor gene occur infrequently in Wilms' tumor. Cancer Res. 1994; 54:2077-2079.
9. Ogawa O, Eccles MR, Szeto J, McNoe LA, Yun K, Maw MA, Smith PJ, Reeve AE. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature. 1993; 362:749-751.
10. Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE, Feinberg AP. Relaxation of imprinted genes in human cancer. Nature. 1993; 362:747-749.
11. Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M, Kim JC, Feinberg AP, Gerald WL, Vargas SO, Chin L, Iafrate AJ, Bell DW, Haber DA. An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. Science. 2007; 315:642-645.
12. Green DM, Breslow NE, Beckwith JB, Finklestein JZ, Grundy P, Thomas PR, Kim T, Shochat S, Haase G, Ritchey M, Kelalis P, D'Angio GJ. Effect of duration of treatment on treatment outcome and cost of treatment for Wilms' tumor: a report from the National Wilms' Tumor Study Group. J Clin Oncol. 1998; 16:3744-3751.
13. Grundy PE, Breslow NE, Li S, Perlman E, Beckwith JB, Ritchey ML, Shamberger RC, Haase GM, D'Angio GJ, Donaldson M, Coppes MJ, Malogolowkin M, Shearer P, Thomas PR, Macklis R, Tomlinson G et al. Loss of heterozygosity for chromosomes 1p and 16q is an adverse prognostic factor in favorable-histology Wilms tumor: a report from the National Wilms Tumor Study Group. J Clin Oncol. 2005; 23:7312-7321.
14. Mitchell C, Pritchard-Jones K, Shannon R, Hutton C, Stevens S, Machin D, Imeson J, Kelsey A, Vujanic GM, Gornall P, Walker J, Taylor R, Sartori P, Hale J, Levitt G, Messahel B et al. Immediate nephrectomy versus preoperative chemotherapy in the management of nonmetastatic Wilms' tumour: results of a randomised trial (UKW3) by the UK Children's Cancer Study Group. Eur J Cancer. 2006; 42:2554-2562.
15. Pritchard-Jones K, Pritchard J. Success of clinical trials in childhood Wilms' tumour around the world. Lancet. 2004; 364:1468-1470.
16. Moulton T, Chung WY, Yuan L, Hensle T, Waber P, Nisen P, Tycko B. Genomic imprinting and Wilms' tumor. Med Pediatr Oncol. 1996; 27:476-483.
17. Moulton T, Crenshaw T, Hao Y, Moosikasuwan J, Lin N, Dembitzer F, Hensle T, Weiss L, McMorrow L, Loew T, et al. Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nat Genet. 1994; 7:440-447.
18. Okamoto K, Morison IM, Taniguchi T, Reeve AE. Epigenetic changes at the insulin-like growth factor II/ H19 locus in developing kidney is an early event in Wilms tumorigenesis. Proc Natl Acad Sci U S A. 1997; 94:5367-5371.
19. Steenman MJ, Rainier S, Dobry CJ, Grundy P, Horon IL, Feinberg AP. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat Genet. 1994; 7:433-439.
20. Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D, Cook JA, Pujol P et al. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet. 2008; 40:1329-1334.
21. Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N. Methylation-specific multiplex ligationdependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet. 2008; 45:106-113.
22. Forbes S, Clements J, Dawson E, Bamford S, Webb T, Dogan A, Flanagan A, Teague J, Wooster R, Futreal PA, Stratton MR. COSMIC 2005. Br J Cancer. 2006; 94:318-322.
23. Fukuzawa R, Anaka MR, Weeks RJ, Morison IM, Reeve AE. Canonical WNT signalling determines lineage specificity in Wilms tumour. Oncogene. 2009; 28:1063-1075.
24. Fukuzawa R, Breslow NE, Morison IM, Dwyer P, Kusafuka T, Kobayashi Y, Becroft DM, Beckwith JB, Perlman EJ, Reeve AE. Epigenetic differences between Wilms' tumours in white and east-Asian children. Lancet. 2004; 363:446-451.
25. Gessler M, Konig A, Arden K, Grundy P, Orkin S, Sallan S, Peters C, Ruyle S, Mandell J, Li F, et al. Infrequent mutation of the WT1 gene in 77 Wilms' Tumors. Hum Mutat. 1994; 3:212-222.
26. Maiti S, Alam R, Amos CI, Huff V. Frequent association of beta-catenin and WT1 mutations in Wilms tumors. Cancer Res. 2000; 60:6288-6292.
27. Ruteshouser EC, Robinson SM, Huff V. Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors. Genes Chromosomes Cancer. 2008; 47:461-470.
28. Satoh Y, Nakadate H, Nakagawachi T, Higashimoto K, Joh K, Masaki Z, Uozumi J, Kaneko Y, Mukai T, Soejima H. Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours. Br J Cancer. 2006; 95:541-547.
29. Wegert J, Wittmann S, Leuschner I, Geissinger E, Graf N, Gessler M. WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact. Genes Chromosomes Cancer. 2009; 48:1102-1111.
30. Fukuzawa R, Heathcott RW, Sano M, Morison IM, Yun K, Reeve AE. Myogenesis in Wilms' tumors is associated with mutations of the WT1 gene and activation of Bcl-2 and the Wnt signaling pathway. Pediatr Dev Pathol. 2004; 7:125-137.
31. Jenkins ZA, Van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet. 2009; 41:95-100.
32. Breslow N, Olshan A, Beckwith JB, Green DM. Epidemiology of Wilms tumor. Med Pediatr Oncol. 1993; 21:172-181.
33. Breslow NE, Norris R, Norkool PA, Kang T, Beckwith JB, Perlman EJ, Ritchey ML, Green DM, Nichols KE. Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. J Clin Oncol. 2003; 21:4579-4585.
34. Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V. Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/ phenotype correlations for Wilms tumor development. Am J Med Genet A. 2004; 127A:249-257.
35. Mitchell C, Jones PM, Kelsey A, Vujanic GM, Marsden B, Shannon R, Gornall P, Owens C, Taylor R, Imeson J, Middleton H, Pritchard J. The treatment of Wilms' tumour: results of the United Kingdom Children's cancer study group (UKCCSG) second Wilms' tumour study. Br J Cancer. 2000; 83:602-608.
36. Pritchard J, Imeson J, Barnes J, Cotterill S, Gough D, Marsden HB, Morris-Jones P, Pearson D. Results of the United Kingdom Children's Cancer Study Group first Wilms' Tumor Study. J Clin Oncol. 1995; 13:124-133.
37. Vujanic GM, Sandstedt B, Harms D, Kelsey A, Leuschner I, de Kraker J. Revised International Society of Paediatric Oncology (SIOP) working classification of renal tumors of childhood. Med Pediatr Oncol. 2002; 38:79-82.