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    Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®): Treatment - Health Professional Information [NCI] - Wilms Tumor

    Table 1. Syndromes and Conditions Associated With Wilms Tumor continued...

    Syndromic causes of Wilms tumor

    • WT1-related syndromes include the following:
      • WAGR syndrome. 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).[8,9] The incidence of bilateral Wilms tumor in children with WAGR syndrome is about 15%.[10] (Refer to the WT1 deletion and WAGR syndrome section of this summary for more information.)
      • Denys-Drash syndrome and Frasier syndrome. 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),[11] both of which are associated with mutations in the WT1 gene.[12] Specifically, germline missense mutations in the WT1 gene are responsible for most Wilms tumors that occur as part of Denys-Drash syndrome.[13,14] The risk of Wilms tumor is about 90% for children with Denys-Drash syndrome.[14]
    • WT2-related syndromes include the following:
      • Beckwith-Wiedemann 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. It is caused by either altered methylation at the imprinted 11p15 region or mutation in that region. The prevalence is about 1% of children with Wilms tumor.[15,16,17,18] Between 20% and 30% of Beckwith-Wiedemann syndrome patients will develop Wilms tumor.[17] (Refer to the WT2 and Beckwith-Wiedemann syndrome section of this summary for more information.)
    • Other syndromes include the following:
      • Perlman syndrome. Perlman syndrome is characterized by fetal gigantism, renal dysplasia, Wilms tumor, islet cell hypertrophy, multiple congenital anomalies, and mental retardation.[19,20] Germline inactivating mutations in DIS3L2 on chromosome 2q37 are associated with Perlman syndrome.[21]
      • 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.[22]
      • 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.[23]
      • 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.[24]
      • 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. BLM is the only gene in which mutations are known to cause Bloom syndrome.[25]
      • 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.[26]
      • Alagille syndrome.[27]
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