Wilms' tumor risk factors: Difference between revisions

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** Bloom syndrome
** Bloom syndrome
** Li-Fraumeni syndrome
** Li-Fraumeni syndrome
** [[Alagille syndrome]]
** [[Alagille 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. Regular age-dependent screening for tumors—including abdominal ultrasound, [[urinalysis]], and biochemical markers—is recommended; however, the true benefit has yet to be determined.
 
::* 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.
 
::* 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.
 
::* 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.
 
::* 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.
 
::* [[Alagille syndrome]]


==References==
==References==

Revision as of 16:40, 31 May 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]

Overview

The risk factors of wilms' tumor include family history, congenital anomalies, and associated syndromes.

Risk factors

  • WT1-related syndromes include the following:
  • WT2-related syndromes include the following:
    • Beckwith-Wiedemann syndrome
  • Other syndromes include the following:
    • Perlman syndrome.
    • Simpson-Golabi-Behemel syndrome
    • Sotos syndrome
    • 9q22.3 microdeletion syndrome
    • Bloom syndrome
    • Li-Fraumeni syndrome
    • Alagille syndrome

References

  1. ↑ National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdq
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