Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, which is on chromosome 11 ( 11p13 ).
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It is important to establish a diagnosis because hemihyperplasia is associated with an increased risk for embryonal tumors, mainly Wilms tumor and hepatoblastoma.
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WT1 ( Wilms Tumor protein 1 ) is an antigen expressed in a restricted set of normal cells including renal cells and hematopoietic cells.
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A gene on the X chromosome, WTX, is inactivated in up to 30 % of Wilms tumor cases, according to research published in 2007.
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The cause of DDS is most commonly ( 96 % of patients ) an abnormality in the WT1 gene ( Wilms tumor suppressor gene ).
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Tumor-specific loss-of-heterozygosity ( LOH ) for chromosomes 1p and 16q identifies a subset of Wilms tumor patients who have a significantly increased risk of relapse and death.
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This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor.
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This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor.
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It is located between the genes DEPDC7 and PRRG4 and is 500, 000 bp downstream from the Wilms Tumor 1 gene ( WT1 ), which is implicated in multiple pathologies.
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Recently, he has removed and frozen the ovaries of three more patients, including one from a 3-year-old girl with Wilms tumor, a childhood kidney cancer, who was about to have chemotherapy.
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