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{{Wilms' tumor}}
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==Overview==
==Overview==
The casue of wilms' tumor is genetic mutations.
Wilms' tumor may be caused by either [[Genetics|genetic]] [[Mutation|mutations]] or [[Chromosome|chromosomal]] alterations.
 
==Causes==
==Causes==
Wilms tumor (hereditary or sporadic) appears to result from changes in one or more of at least ten genes. The changes may be somatic or germline. Several genes, but not all, will be discussed here.
* [[Genetic]] mutations: <ref name="cancergov">National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq </ref>
 
** Wilms tumor 1 gene ([[WT1]])
Aberrations in germline or clonal WT1, WT2, and Wnt activation when combined with stage of development of the nephron, characterize different subsets of Wilms tumor that can be differentiated by using gene expression profiling. This genetic/ontogenic categorization describes some of the heterogeneity among Wilms tumors.
** WT2<ref name="pmid9441738">{{cite journal |vauthors=Crider-Miller SJ, Reid LH, Higgins MJ, Nowak NJ, Shows TB, Futreal PA, Weissman BE |title=Novel transcribed sequences within the BWS/WT2 region in 11p15.5: tissue-specific expression correlates with cancer type |journal=Genomics |volume=46 |issue=3 |pages=355–63 |date=December 1997 |pmid=9441738 |doi=10.1006/geno.1997.5061 |url=}}</ref>
 
** WTX<ref name="pmid17204608">{{cite journal |vauthors=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 |title=An X chromosome gene, WTX, is commonly inactivated in Wilms tumor |journal=Science |volume=315 |issue=5812 |pages=642–5 |date=February 2007 |pmid=17204608 |doi=10.1126/science.1137509 |url=}}</ref>
'''Wilms tumor 1 gene (WT1)'''
 
The WT1 gene is located on the short arm of chromosome 11 (11p13). The normal function of WT1 is required for normal genitourinary development and is important for differentiation of the renal blastema.
 
When modern molecular genetic techniques are used in testing, the incidence of germline WT1 mutations is about 11%. Most of these mutations may be diagnosed, or at least highly suspected, on the basis of clinical syndromic findings at or before diagnosis of Wilms tumor. In a United Kingdom Children's Cancer Study Group study of patients entered in clinical trials, about 2% of Wilms tumor patients had germline mutations in WT1 but no genitourinary abnormalities, as detected by WT1 heteroduplex DNA screen followed by sequencing.[37] These were mostly de novo mutations in children presenting before age 2 years, and the tumors were mostly unilateral with stromal histology. The relatively low number of reports of parent and child pairs with Wilms tumors and WT1 mutations may be the result of decreased fertility. However, the offspring of a child who has a parent with Wilms tumor and WT1 mutation will be at risk for developing Wilms tumor.
 
Germline WT1 mutations in children with Wilms tumors do not confer poor prognoses per se.
 
Because deletion of WT1 was the first mutation found to be associated with Wilms tumor, WT1 was assumed to be a conventional tumor suppressor gene. However, non-inactivating mutations can result in altered WT1 protein function that also results in Wilms tumor, such as in Denys-Drash syndrome.


WT1 mutations are more common in children with Wilms tumor and one of the following:
* Other genes and chromosomal alterations:
** 1q<ref name="pmid1850292">{{cite journal |vauthors=Truong HT, Pratt EA, Ho C |title=Interaction of the membrane-bound D-lactate dehydrogenase of Escherichia coli with phospholipid vesicles and reconstitution of activity using a spin-labeled fatty acid as an electron acceptor: a magnetic resonance and biochemical study |journal=Biochemistry |volume=30 |issue=16 |pages=3893–8 |date=April 1991 |pmid=1850292 |doi= |url=}}</ref>
** 16q and 1p<ref name="pmid8162576">{{cite journal |vauthors=Grundy PE, Telzerow PE, Breslow N, Moksness J, Huff V, Paterson MC |title=Loss of heterozygosity for chromosomes 16q and 1p in Wilms' tumors predicts an adverse outcome |journal=Cancer Res. |volume=54 |issue=9 |pages=2331–3 |date=May 1994 |pmid=8162576 |doi= |url=}}</ref>
** CACNA1E<ref name="pmid17189400">{{cite journal |vauthors=Natrajan R, Little SE, Reis-Filho JS, Hing L, Messahel B, Grundy PE, Dome JS, Schneider T, Vujanic GM, Pritchard-Jones K, Jones C |title=Amplification and overexpression of CACNA1E correlates with relapse in favorable histology Wilms' tumors |journal=Clin. Cancer Res. |volume=12 |issue=24 |pages=7284–93 |date=December 2006 |pmid=17189400 |doi=10.1158/1078-0432.CCR-06-1567 |url=}}</ref>
** 7p21
** SKCG-1
** TP53 (tumor suppressor gene)
** FBXW7
** PTCH1
** DICER1
** MYCN
==References==
{{Reflist|2}}


* WAGR syndrome, Denys-Drash syndrome,[14] or Frasier syndrome.[11]
* Genitourinary anomalies, including hypospadias and cryptorchidism.
* Bilateral Wilms tumor.
* Unilateral Wilms tumor with nephrogenic rests in the contralateral kidney.
* Stromal and rhabdomyomatous differentiation.==References=={{Reflist|2}}
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Latest revision as of 19:53, 18 June 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shanshan Cen, M.D. [2]Sargun Singh Walia M.B.B.S.[3]

Overview

Wilms' tumor may be caused by either genetic mutations or chromosomal alterations.

Causes

  • Other genes and chromosomal alterations:
    • 1q[4]
    • 16q and 1p[5]
    • CACNA1E[6]
    • 7p21
    • SKCG-1
    • TP53 (tumor suppressor gene)
    • FBXW7
    • PTCH1
    • DICER1
    • MYCN

References

  1. ↑ National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq
  2. ↑ Crider-Miller SJ, Reid LH, Higgins MJ, Nowak NJ, Shows TB, Futreal PA, Weissman BE (December 1997). "Novel transcribed sequences within the BWS/WT2 region in 11p15.5: tissue-specific expression correlates with cancer type". Genomics. 46 (3): 355–63. doi:10.1006/geno.1997.5061. PMID 9441738.
  3. ↑ 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 (February 2007). "An X chromosome gene, WTX, is commonly inactivated in Wilms tumor". Science. 315 (5812): 642–5. doi:10.1126/science.1137509. PMID 17204608.
  4. ↑ Truong HT, Pratt EA, Ho C (April 1991). "Interaction of the membrane-bound D-lactate dehydrogenase of Escherichia coli with phospholipid vesicles and reconstitution of activity using a spin-labeled fatty acid as an electron acceptor: a magnetic resonance and biochemical study". Biochemistry. 30 (16): 3893–8. PMID 1850292.
  5. ↑ Grundy PE, Telzerow PE, Breslow N, Moksness J, Huff V, Paterson MC (May 1994). "Loss of heterozygosity for chromosomes 16q and 1p in Wilms' tumors predicts an adverse outcome". Cancer Res. 54 (9): 2331–3. PMID 8162576.
  6. ↑ Natrajan R, Little SE, Reis-Filho JS, Hing L, Messahel B, Grundy PE, Dome JS, Schneider T, Vujanic GM, Pritchard-Jones K, Jones C (December 2006). "Amplification and overexpression of CACNA1E correlates with relapse in favorable histology Wilms' tumors". Clin. Cancer Res. 12 (24): 7284–93. doi:10.1158/1078-0432.CCR-06-1567. PMID 17189400.

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