Wilm’s Tumor: Syndrome-Based and Molecular Diagnostics

Abstract

The genotype-phenotype correlations are quite often revealed in children with Wilm’s tumor. Phenotypedriven mutation detection provides the opportunity to predict a disease, to define and work out personal treatment course considering all the risks of possible complications. The article presents data on the main syndromes and genetically determined diseases associated with Wilm’s tumor. Patients with some WT1 associated syndromes (including WAGR and Denis–Drash), Perlman syndromes, the mosaic aneuploidy and Fanconi anemia due to biallelic BRCA2 mutation are at high risk of Wilm’s tumor development (>20%). Moderate risk of nephroblastoma development (5–20%) is registered in children with Fraser syndrome, Beckwith–Wiedemann syndrome with 11p15 disomy, and Sympson–Golabi–Behmel syndrome. Patients with the isolated hemihyipertrophy, Blооm syndrome, Li–Fraumeni syndrome, hyperparathyroid-jaw tumor (HPT-JT) syndromes, Mulibrey nanism, and other chromosomal aberrations seem to be at low risk for nephroblastoma (<5%). Future achievements in molecular biology will allow to develop new approaches to personalized treatment supplementing the treatment course with molecular target therapy in patients at high risk of disease recurrence.