KEGG   DISEASE: Nephroblastoma
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
  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
  Authors
Diniz G
  Title
Histopathological and Molecular Characteristics of Wilms Tumor
  Journal
Wilms Tumor (2016)
DOI:10.15586/codon.wt.2016
Reference
  Authors
Dome JS, Huff V
  Title
Wilms Tumor Predisposition
  Journal
GeneReviews (1993)
Reference
  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
  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
  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
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