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• W3021125338 abstract "This chapter emphasizes the histology, genetics, and associated syndromes of Wilms’ tumors. Wilms’ tumors are characterized by the presence of undifferentiated blastemal (mesenchymal) elements together with stromal and epithelial components. The vast majority of Wilms’ tumors are unilateral and sporadic, presenting before age 5 in otherwise healthy children, with equal incidence between the sexes. The most common molecular abnormality associated with sporadic Wilms’ tumor is genomic loss of imprinting (LOI), a feature common to several embryonal cancers and many other tumor types. LOI at chromosome 11p15 is observed in 30% of sporadic Wilms’ tumors and involves activation of the normally silent maternal allele of insulin-like growth factor 2(Igf2) resulting in biallelic Igf2expression,silencing of the normally active maternal allele of H19,and hypermethylation of the differentially methylated region (DMR) upstream of the maternal copy of H19. Loss of heterozygosity (LOH) at chromosome 11 occurs in 30-40% of Wilms’ tumors, encompassing allelic loss of both the WT1locus at chromosome 11p13 and the locus telomeric to it at 11p15. The loss-of-function mutations in WT1account for 10-15% of cases of sporadic Wilms’ tumor. WT1mutations includes both nonsense and missense changes, as well as the generation of aberrant splice forms, and are distributed throughout the coding sequence. The sporadic heterozygous mutations of WT1may lead to Wilms’ tumor, accompanied by mild urogenital defects including cryptorchidism and hypospadias in boys, or horse-shoe kidney in children of both sexes. True familial Wilms’ tumor is extremely rare, accounting for only 1-2% of all cases suggesting that de novo germline mutations, rather than familial transmission of a mutant allele, underlie the genetic predisposition." @default.
• W3021125338 created "2020-05-13" @default.
• W3021125338 creator A5019654934 @default.
• W3021125338 creator A5064771017 @default.
• W3021125338 date "2009-01-01" @default.
• W3021125338 modified "2023-09-25" @default.
• W3021125338 title "Wilms' Tumor" @default.
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