Entry

H02301                      Disease

Name

Nephroblastoma;
Wilms tumor

Description

Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma comprises three histological components namely blastemal, epithelial and stromal. WT1, a zinc-finger transcription factor, was identified as the first nephroblastoma gene. Several other genes including CTNNB1, WTX, and TP53 have also been implicated in various stages of tumorigenesis of nephroblastoma.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of the urinary system
   H02301  Nephroblastoma
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of urinary tract
     2C90  Malignant neoplasms of kidney, except renal pelvis
      H02301  Nephroblastoma

Gene

(WT1) WT1 [HSA:7490] [KO:K09234]
(WT5) POU6F2 [HSA:11281] [KO:K09368]
(WT6) REST [HSA:5978] [KO:K09222]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
BRCA2 [HSA:675] [KO:K08775]
GPC3 [HSA:2719] [KO:K08109]

Drug

Vincristine sulfate [DR:D02197]
Dactinomycin [DR:D00214]
Doxorubicin hydrochloride [DR:D01275]
Dinutuximab [DR:D10559]

Other DBs

ICD-11:

2C90.Y

ICD-10:

C64

MeSH:

D009396

OMIM:

194070 601583 616806

Reference

PMID:27512769

Authors

Popov SD, Sebire NJ, Vujanic GM

Title

Wilms' Tumour - Histology and Differential Diagnosis

Journal

Wilms Tumor (2016)
DOI:10.15586/codon.wt.2016

Reference

PMID:27512764

Authors

Diniz G

Title

Histopathological and Molecular Characteristics of Wilms Tumor

Journal

Wilms Tumor (2016)
DOI:10.15586/codon.wt.2016

Reference

PMID:20301471

Authors

Dome JS, Huff V

Title

Wilms Tumor Predisposition

Journal

GeneReviews (1993)

Reference

PMID:26892980

Authors

Deng C, Dai R, Li X, Liu F

Title

Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review.

Journal

Cancer Sci 107:690-9 (2016)
DOI:10.1111/cas.12910

Reference

PMID:24713986

Authors

Al-Hussain T, Ali A, Akhtar M

Title

Wilms tumor: an update.

Journal

Adv Anat Pathol 21:166-73 (2014)
DOI:10.1097/PAP.0000000000000017

Reference

PMID:22461142

Authors

Royer-Pokora B

Title

Genetics of pediatric renal tumors.

Journal

Pediatr Nephrol 28:13-23 (2013)
DOI:10.1007/s00467-012-2146-4

Reference

PMID:3031816 (WT1)

Authors

Weissman BE, Saxon PJ, Pasquale SR, Jones GR, Geiser AG, Stanbridge EJ

Title

Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression.

Journal

Science 236:175-80 (1987)
DOI:10.1126/science.3031816

Reference

PMID:17164647 (POU6F2)

Authors

Di Renzo F, Doneda L, Menegola E, Sardella M, De Vecchi G, Collini P, Spreafico F, Fossati-Bellani F, Giavini E, Radice P, Perotti D

Title

The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors.

Journal

J Pediatr Hematol Oncol 28:791-7 (2006)
DOI:10.1097/MPH.0b013e31802d3e65

Reference

PMID:26551668 (REST)

Authors

Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N

Title

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Journal

Nat Genet 47:1471-4 (2015)
DOI:10.1038/ng.3440

Reference

PMID:15689453 (BRCA2)

Authors

Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N

Title

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

Journal

J Med Genet 42:147-51 (2005)
DOI:10.1136/jmg.2004.022673

Reference

PMID:12085187 (GPC3)

Authors

White GR, Kelsey AM, Varley JM, Birch JM

Title

Somatic glypican 3 (GPC3) mutations in Wilms' tumour.

Journal

Br J Cancer 86:1920-2 (2002)
DOI:10.1038/sj.bjc.6600417

DISEASE: Nephroblastoma