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{{Wilms' tumor}}
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==Overview==
==Overview==
Common risk factors in the development of wilms tumor include familial wilms tumor, [[congenital anomalies]], [[WT1|WT-1]] related syndromes and WT2-related [[Syndrome|syndromes]]. Less common risk factors in the development of wilms tumor include perlman syndrome, simpson-golabi-ehemel syndrome, [[Sotos syndrome]], 9q22.3 microdeletion syndrome, [[Bloom syndrome]], li-fraumeni syndrome and [[Alagille syndrome]]. 


==Risk factors==
== Risk factors ==
* Congenital anomaly
:* Hemihyperplasia
:* Urinary tract anomalies, including cryptorchidism and hypospadias
:* Aniridia


* Syndromic association of Wilms tumor
=== Common Risk Factors ===
Note: Wilms tumor 1 (WT1) and Wilms tumor 2 (WT2) are genes related to wilms tumor.
* Common risk factors in the development of wilms tumor include:
:* WT1-related syndromes include the following:
** Familial Wilms tumor <ref name="cancergov">National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq </ref>
::* [[WAGR syndrome]]
** Congenital anomaly
::: WAGR syndrome is characterized by Wilms tumor, aniridia, genitourinary anomaly, and mental retardation. The constellation of WAGR syndrome occurs in association with an interstitial deletion on chromosome 11 (del(11p13)) (prevalence is about 0.4% of children with Wilms tumors). The incidence of bilateral Wilms tumor in children with WAGR syndrome is about 15%.
*** Hemihyperplasia
::* [[Denys-Drash syndrome]] and [[Frasier syndrome]]  
*** Urinary tract anomalies, including [[cryptorchidism]] and [[hypospadias]]
::: Genitourinary anomalies including hypospadias, undescended testis, and others are associated with WT1 deletions (prevalence is about 8%–10% of children with Wilms tumor). Children with pseudo-hermaphroditism and/or renal disease (glomerulonephritis or nephrotic syndrome) who develop Wilms tumor may have Denys-Drash or Frasier syndrome (characterized by male hermaphroditism, primary amenorrhea, chronic renal failure, and other abnormalities), both of which are associated with mutations in the WT1 gene. Specifically, germline missense mutations in the WT1 gene are responsible for most Wilms tumors that occur as part of Denys-Drash syndrome. The risk of Wilms tumor is about 90% for children with Denys-Drash syndrome.
*** [[Aniridia]]
 
** WT1-related syndromes include the following:<ref name="cancergov2">National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq</ref>
:* WT2-related syndromes include the following:
*** [[WAGR syndrome|WAGR]] syndrome
::* [[Beckwith-Wiedemann syndrome]]  
*** [[Denys-Drash syndrome]] and [[Frasier syndrome]]
::: Beckwith-Wiedemann syndrome is an overgrowth syndrome characterized by asymmetric growth of one or more parts of the body, large tongue, omphalocele or umbilical hernia at birth, creases or pits in the skin near the ears, hypoglycemia (in infants), and kidney abnormalities. It is also characterized by the development of Wilms tumor, rhabdomyosarcoma, and hepatoblastoma.
** WT2-related syndromes include the following:
 
*** [[Beckwith-Wiedemann syndrome]]<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>
The molecular etiology is complex, involving alterations of the expression of multiple imprinted growth regulatory genes on chromosome 11p15.5. The most common cause is altered methylation at the imprinted 11p15 region (52%–57%), followed by paternal uniparental disomy (20%), unknown causes (13%–15%), and mutations in that region (10%).
 
The prevalence is about 1% of children with Wilms tumor. Between 20% and 30% of Beckwith-Wiedemann syndrome patients will develop Wilms tumor. Beckwith-Wiedemann syndrome patients with hemihyperplasia have a fourfold increased tumor risk over that of Beckwith-Wiedemann syndrome patients without hemihyperplasia.
 
:* Other syndromes include the following:
Perlman syndrome. Perlman syndrome, a rare, autosomal, recessively inherited, congenital overgrowth syndrome, is characterized by fetal gigantism, renal dysplasia and nephroblastomatosis, islet cell hypertrophy, multiple congenital anomalies, and mental retardation. Survivors have a high risk of developing Wilms tumor.[21]
 
Germline inactivating mutations in DIS3L2 on chromosome 2q37 are associated with Perlman syndrome. Preliminary data suggest that DIS3L2 plays a role in normal kidney development and in a subset of sporadic Wilms tumor cases.[22]
 
Simpson-Golabi-Behemel syndrome. Simpson-Golabi-Behemel syndrome is characterized by macroglossia, macrosomia, renal and skeletal abnormalities, and increased risk of embryonal cancers. It is caused by mutations in GPC3 and is believed to enhance the risk of Wilms tumor.[23] Regular age-dependent screening for tumors—including abdominal ultrasound, urinalysis, and biochemical markers—is recommended; however, the true benefit has yet to be determined.[7]
Sotos syndrome. Sotos syndrome is characterized by cerebral gigantism and learning disability, ranging from mild to severe. Sotos syndrome is associated with behavioral problems, congenital cardiac anomalies, neonatal jaundice, and renal anomalies such as Wilms tumor, scoliosis, and seizures. NSD1 is the only gene in which mutations are known to cause Sotos syndrome.[24]
9q22.3 microdeletion syndrome. 9q22.3 microdeletion syndrome is characterized by craniofacial abnormalities, metopic craniosynostosis, hydrocephalus, macrosomia, and learning disabilities. Three patients presented with Wilms tumor in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. Although the size of the deletions was variable, all encompassed the PTCH1 gene.[25]
Bloom syndrome. Bloom syndrome is characterized by short stature and being thinner than other family members, sun-sensitive skin changes, and an increased risk of Wilms tumor. BLMis the only gene in which mutations are known to cause Bloom syndrome.[26]
Li-Fraumeni syndrome. Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, osteosarcoma, soft tissue sarcoma, brain tumor, leukemia, adrenocortical carcinoma, and Wilms tumor. The TP53 gene mutation is present in most families with Li-Fraumeni syndrome. The CHEK2 gene mutation is also known to cause Li-Fraumeni syndrome.[27]
Alagille syndrome.[28]


=== Less Common Risk Factors ===
*Less common risk factors in the development of wilms tumor include:
** Other syndromes include the following:
*** Perlman syndrome<ref name="pmid23613427">{{cite journal |vauthors=Morris MR, Astuti D, Maher ER |title=Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2 |journal=Am J Med Genet C Semin Med Genet |volume=163C |issue=2 |pages=106–13 |date=May 2013 |pmid=23613427 |doi=10.1002/ajmg.c.31358 |url=}}</ref>
*** Simpson-Golabi-Behemel syndrome<ref name="pmid1219">{{cite journal |vauthors=Alton KB, Patrick JE, Shaw C, McGuire JL |title=Comparative biotransformation of triflubazam in rats, dogs, and monkeys |journal=Drug Metab. Dispos. |volume=3 |issue=6 |pages=445–52 |date=1975 |pmid=1219 |doi= |url=}}</ref>
*** [[Sotos syndrome]]<ref name="pmid1479">{{cite journal |vauthors=Heller BR, Walsh FJ |title=Changing nursing students' attitudes toward the aged: an experimental study |journal=J Nurs Educ |volume=15 |issue=1 |pages=9–17 |date=January 1976 |pmid=1479 |doi= |url=}}</ref>
*** 9q22.3 microdeletion syndrome
*** [[Bloom syndrome]]<ref name="pmid8998536">{{cite journal |vauthors=Berger C, Frappaz D, Leroux D, Blez F, Vercherat M, Bouffet E, Jalbert P, Brunat-Mentigny M |title=[Wilms tumor and Bloom syndrome] |language=French |journal=Arch Pediatr |volume=3 |issue=8 |pages=802–5 |date=August 1996 |pmid=8998536 |doi= |url=}}</ref>
*** Li-Fraumeni syndrome<ref name="pmid83924352">{{cite journal |vauthors=Hartley AL, Birch JM, Tricker K, Wallace SA, Kelsey AM, Harris M, Jones PH |title=Wilms' tumor in the Li-Fraumeni cancer family syndrome |journal=Cancer Genet. Cytogenet. |volume=67 |issue=2 |pages=133–5 |date=June 1993 |pmid=8392435 |doi= |url=}}</ref>
*** [[Alagille syndrome]]<ref name="pmid17584876">{{cite journal |vauthors=Bourdeaut F, Guiochon-Mantel A, Fabre M, Martelli H, Patte C, Porta G, Bernard O, Delattre O, Jacquemin E |title=Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders |journal=Pediatr Blood Cancer |volume=50 |issue=4 |pages=908–11 |date=April 2008 |pmid=17584876 |doi=10.1002/pbc.21255 |url=}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Kidney diseases]]
[[Category:Types of cancer]]
[[Category:Urology]]
[[Category:Pediatrics]]
[[Category:Hematology]]

Latest revision as of 21:26, 11 June 2018

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

Overview

Common risk factors in the development of wilms tumor include familial wilms tumor, congenital anomalies, WT-1 related syndromes and WT2-related syndromes. Less common risk factors in the development of wilms tumor include perlman syndrome, simpson-golabi-ehemel syndrome, Sotos syndrome, 9q22.3 microdeletion syndrome, Bloom syndrome, li-fraumeni syndrome and Alagille syndrome.

Risk factors

Common Risk Factors

Less Common Risk Factors

References

  1. ↑ National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq
  2. ↑ National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq
  3. ↑ 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.
  4. ↑ Morris MR, Astuti D, Maher ER (May 2013). "Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2". Am J Med Genet C Semin Med Genet. 163C (2): 106–13. doi:10.1002/ajmg.c.31358. PMID 23613427.
  5. ↑ Alton KB, Patrick JE, Shaw C, McGuire JL (1975). "Comparative biotransformation of triflubazam in rats, dogs, and monkeys". Drug Metab. Dispos. 3 (6): 445–52. PMID 1219.
  6. ↑ Heller BR, Walsh FJ (January 1976). "Changing nursing students' attitudes toward the aged: an experimental study". J Nurs Educ. 15 (1): 9–17. PMID 1479.
  7. ↑ Berger C, Frappaz D, Leroux D, Blez F, Vercherat M, Bouffet E, Jalbert P, Brunat-Mentigny M (August 1996). "[Wilms tumor and Bloom syndrome]". Arch Pediatr (in French). 3 (8): 802–5. PMID 8998536.
  8. ↑ Hartley AL, Birch JM, Tricker K, Wallace SA, Kelsey AM, Harris M, Jones PH (June 1993). "Wilms' tumor in the Li-Fraumeni cancer family syndrome". Cancer Genet. Cytogenet. 67 (2): 133–5. PMID 8392435.
  9. ↑ Bourdeaut F, Guiochon-Mantel A, Fabre M, Martelli H, Patte C, Porta G, Bernard O, Delattre O, Jacquemin E (April 2008). "Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders". Pediatr Blood Cancer. 50 (4): 908–11. doi:10.1002/pbc.21255. PMID 17584876.
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