CTNNB1-mutated Wilms tumors
Friday 30 December 2011
Activation of β-catenin has been identified as a possible mechanism for the development of nephroblastomas.
Inactivation of the adenomatous polyposis coli (APC) protein is an important regulatory mechanism of activating β-catenin.
CTNNB1 somatic mutations
Activation of beta-catenin is a late event in the pathogenesis of nephroblastomas and rarely correlated with genetic changes of the APC gene. (#22081130#)
The strong representation of muscle-related genes in the expression profile of CTNNB1-mutated Wilms tumors corresponded to histologically detectable areas of myomatous cells in these tumors that displayed intense and preferential nuclear beta-catenin antibody staining. (#16575872#)
Several upstream inhibitors of WNT/beta-catenin signaling like WIF1 and PRDC were also strongly up-regulated in the CTNNB1-mutated Wilms tumors. (#16575872#)
Deregulated genes have been detected in both the retinoic acid and the RAS pathways, such as ATX/ENPP2 and RIS1, suggesting an association between these two pathways with that of WNT. (#16575872#)
Activation of beta-catenin is a late event in the pathogenesis of nephroblastomas and rarely correlated with genetic changes of the APC gene. Grill C, Sunitsch S, Hatz M, Hauser-Kronberger C, Leuschner I, Hoefler G, Guertl B. Pathology. 2011 Dec;43(7):702-706. PMID: #22081130#