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Wilms tumor 6(WT6)

MedGen UID:
855962
Concept ID:
C3891301
Neoplastic Process
Synonyms: WILMS TUMOR 6, SUSCEPTIBILITY TO; WT6
 
Gene (location): REST (4q12)
 
Monarch Initiative: MONDO:0014779
OMIM®: 616806

Definition

Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000. It is often described as an embryonal tumor, as it arises from embryonal cells in which growth and/or differentiation have become dysregulated during development (summary by Mahamdallie et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070). [from OMIM]

Additional description

From MedlinePlus Genetics
Wilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.

Wilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).

With proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.

Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.  https://medlineplus.gov/genetics/condition/wilms-tumor

Clinical features

From HPO
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Chan PT, Palermo GD, Veeck LL, Rosenwaks Z, Schlegel PN
Cancer 2001 Sep 15;92(6):1632-7. doi: 10.1002/1097-0142(20010915)92:6<1632::aid-cncr1489>3.0.co;2-i. PMID: 11745242

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Wilms Tumor (Nephroblastoma), 2023

Recent clinical studies

Etiology

Murphy AJ, Cheng C, Williams J, Shaw TI, Pinto EM, Dieseldorff-Jones K, Brzezinski J, Renfro LA, Tornwall B, Huff V, Hong AL, Mullen EA, Crompton B, Dome JS, Fernandez CV, Geller JI, Ehrlich PF, Mulder H, Oak N, Maciezsek J, Jablonowski CM, Fleming AM, Pichavaram P, Morton CL, Easton J, Nichols KE, Clay MR, Santiago T, Zhang J, Yang J, Zambetti GP, Wang Z, Davidoff AM, Chen X
Nat Commun 2023 Dec 18;14(1):8006. doi: 10.1038/s41467-023-43730-0. PMID: 38110397Free PMC Article
Davidoff AM
Curr Opin Pediatr 2009 Jun;21(3):357-64. doi: 10.1097/MOP.0b013e32832b323a. PMID: 19417665Free PMC Article
Trebo MM, Mann G, Dworzak M, Zoubek A, Gadner H
Med Pediatr Oncol 2003 Dec;41(6):574. doi: 10.1002/mpo.10398. PMID: 14595722
Cecchetto G, Previtera C, Messineo A, Longo M, Guglielmi M
Tumori 1990 Feb 28;76(1):81-3. doi: 10.1177/030089169007600122. PMID: 2157310
Canale VC, Muecke EC
Urology 1974 Jun;3(6):675-83. doi: 10.1016/s0090-4295(74)80202-5. PMID: 4366270

Diagnosis

Murphy AJ, Cheng C, Williams J, Shaw TI, Pinto EM, Dieseldorff-Jones K, Brzezinski J, Renfro LA, Tornwall B, Huff V, Hong AL, Mullen EA, Crompton B, Dome JS, Fernandez CV, Geller JI, Ehrlich PF, Mulder H, Oak N, Maciezsek J, Jablonowski CM, Fleming AM, Pichavaram P, Morton CL, Easton J, Nichols KE, Clay MR, Santiago T, Zhang J, Yang J, Zambetti GP, Wang Z, Davidoff AM, Chen X
Nat Commun 2023 Dec 18;14(1):8006. doi: 10.1038/s41467-023-43730-0. PMID: 38110397Free PMC Article
Granja MF, O'Brien AT, Trujillo S, Mancera J, Aguirre DA
AJR Am J Roentgenol 2015 Dec;205(6):1188-93. doi: 10.2214/AJR.15.14548. PMID: 26587924
Ritchey ML, Azizkhan RG, Beckwith JB, Hrabovsky EE, Haase GM
J Pediatr Surg 1995 Jun;30(6):856-9. doi: 10.1016/0022-3468(95)90764-5. PMID: 7666322
Warrier RP, Regueira O
Pediatr Nephrol 1992 Jul;6(4):358-64. doi: 10.1007/BF00869738. PMID: 1323319
Canale VC, Muecke EC
Urology 1974 Jun;3(6):675-83. doi: 10.1016/s0090-4295(74)80202-5. PMID: 4366270

Therapy

Lizhi L, Rongdong H, Shaohua H, Yingquan K, Huihuang X, Shan L, Kunbin T, Di X
Fetal Pediatr Pathol 2021 Dec;40(6):653-662. Epub 2020 Feb 18 doi: 10.1080/15513815.2020.1725937. PMID: 32066305
Daw NC, Chi YY, Kalapurakal JA, Kim Y, Hoffer FA, Geller JI, Perlman EJ, Ehrlich PF, Mullen EA, Warwick AB, Grundy PE, Paulino AC, Gratias E, Ward D, Anderson JR, Khanna G, Tornwall B, Fernandez CV, Dome JS; AREN0321 Study Committee
J Clin Oncol 2020 May 10;38(14):1558-1568. Epub 2020 Mar 5 doi: 10.1200/JCO.19.01265. PMID: 32134700Free PMC Article
Trebo MM, Mann G, Dworzak M, Zoubek A, Gadner H
Med Pediatr Oncol 2003 Dec;41(6):574. doi: 10.1002/mpo.10398. PMID: 14595722
Warrier RP, Regueira O
Pediatr Nephrol 1992 Jul;6(4):358-64. doi: 10.1007/BF00869738. PMID: 1323319
Canale VC, Muecke EC
Urology 1974 Jun;3(6):675-83. doi: 10.1016/s0090-4295(74)80202-5. PMID: 4366270

Prognosis

Dix DB, Seibel NL, Chi YY, Khanna G, Gratias E, Anderson JR, Mullen EA, Geller JI, Kalapurakal JA, Paulino AC, Perlman EJ, Ehrlich PF, Malogolowkin M, Gastier-Foster JM, Wagner E, Grundy PE, Fernandez CV, Dome JS
J Clin Oncol 2018 Jun 1;36(16):1564-1570. Epub 2018 Apr 16 doi: 10.1200/JCO.2017.77.1931. PMID: 29659330Free PMC Article
Rampal R, Figueroa ME
Haematologica 2016 Jun;101(6):672-9. doi: 10.3324/haematol.2015.141796. PMID: 27252512Free PMC Article
Hartman DJ, MacLennan GT
J Urol 2005 Jun;173(6):2147. doi: 10.1097/01.ju.0000163663.95684.70. PMID: 15879875
Warrier RP, Regueira O
Pediatr Nephrol 1992 Jul;6(4):358-64. doi: 10.1007/BF00869738. PMID: 1323319
Canale VC, Muecke EC
Urology 1974 Jun;3(6):675-83. doi: 10.1016/s0090-4295(74)80202-5. PMID: 4366270

Clinical prediction guides

Wang YQ, Wu DH, Wei D, Shen JY, Huang ZW, Liang XY, Cho WCS, Ma J, Lv J, Chen YP
Sci Adv 2023 Jan 6;9(1):eadd0960. doi: 10.1126/sciadv.add0960. PMID: 36608137Free PMC Article
Potluri S, Assi SA, Chin PS, Coleman DJL, Pickin A, Moriya S, Seki N, Heidenreich O, Cockerill PN, Bonifer C
Cell Rep 2021 Apr 20;35(3):109010. doi: 10.1016/j.celrep.2021.109010. PMID: 33882316
Dix DB, Seibel NL, Chi YY, Khanna G, Gratias E, Anderson JR, Mullen EA, Geller JI, Kalapurakal JA, Paulino AC, Perlman EJ, Ehrlich PF, Malogolowkin M, Gastier-Foster JM, Wagner E, Grundy PE, Fernandez CV, Dome JS
J Clin Oncol 2018 Jun 1;36(16):1564-1570. Epub 2018 Apr 16 doi: 10.1200/JCO.2017.77.1931. PMID: 29659330Free PMC Article
Kusumakumary P, Vats TS, Ankathil R, Gattamaneni HR, Nair MK
Indian J Pediatr 1997 Nov-Dec;64(6):873-8. doi: 10.1007/BF02725515. PMID: 10771932
Murphree AL, Benedict WF
Science 1984 Mar 9;223(4640):1028-33. doi: 10.1126/science.6320372. PMID: 6320372

Recent systematic reviews

Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P
Acta Neurol Belg 2023 Oct;123(5):1693-1701. Epub 2023 Jul 19 doi: 10.1007/s13760-023-02336-5. PMID: 37468803Free PMC Article
Doganis D, Katsimpris A, Panagopoulou P, Bouka P, Bouka E, Moschovi M, Polychronopoulou S, Papakonstantinou E, Tragiannidis A, Katzilakis N, Dana H, Antoniadi K, Stefanaki K, Strantzia K, Dessypris N, Schüz J, Petridou ET
Cancer Epidemiol 2020 Aug;67:101769. Epub 2020 Jul 10 doi: 10.1016/j.canep.2020.101769. PMID: 32659726
Han Q, Li K, Dong K, Xiao X, Yao W, Liu G
J Pediatr Surg 2018 Dec;53(12):2465-2469. Epub 2018 Sep 1 doi: 10.1016/j.jpedsurg.2018.08.022. PMID: 30274708
Vanden Berg RN, Bierman EN, Noord MV, Rice HE, Routh JC
Urol Oncol 2016 Jan;34(1):24-32. Epub 2015 Aug 5 doi: 10.1016/j.urolonc.2015.07.003. PMID: 26254695Free PMC Article
Granja MF, O'Brien AT, Trujillo S, Mancera J, Aguirre DA
AJR Am J Roentgenol 2015 Dec;205(6):1188-93. doi: 10.2214/AJR.15.14548. PMID: 26587924

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Wilms Tumor (Nephroblastoma), 2023

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