Secret genetic risks in Wilms tumors: new hope for children!

Secret genetic risks in Wilms tumors: new hope for children!

A research team from the University of Würzburg has published current findings on Wilms tumors, a frequent form of kidney cancer in small children. Every year, around 100 children fall ill in Germany on this tumor type, which affects children under the age of five. The researchers focused on the genetic causes of these diseases and were able to make decisive progress in risk assessment and early detection. These findings could serve as the basis for targeted screening and improve treatment.

The study carried out in cooperation with the Wellcome Sanger Institute in Cambridge analyzed the genetic predispositions for Wilms tumors using samples from the Wilms-Tumor-Biobank. This organicank collected rehearsals from around 1,800 affected children for over 30 years. The examination identified a total of 20 family tumors and 109 bilateral tumors. Over 90% of cases showed genetic predispositions. These results support Alfred Knudsen's "Two-Hit Hypothesis" for tumor development, which says that both a genetic predisposition and a subsequent mutation in both copies of a tumor-uppressor gene are necessary to develop a tumor

genetic factors and their meaning

The most common mutation that has been identified lies in the WT1 gene, a tumor-uppressor gene. The inactivation of both WT1 copies and the activation of the IGF2 growth factor is crucial for tumor formation. In about 50% of the patients, genetic changes in the germination railway could be detected. Another remarkable finding is that a third of the children with Wilms tumor had disturbances of the genomic character of the IGF2 gene that cannot be inherited. This indicates the complexity of the genetic factors that can lead to tumor formation.

In addition, children with an epigenetic predisposition often show a “mosaic” of normal and disturbed IGF2 embossing, which can lead to mutations in kidney cells that ultimately develop tumors. These results illustrate that in addition to the genetic mutations, epigenetic factors also play a role in the development of Wilms tumors.

important recommendations for early detection

The researchers recommend molecular examinations of blood and tumor samples to identify risk cases at an early stage. The findings also have important implications for the risk assessment of siblings of affected children, since they can have an increased risk of second tumors or early kidney failure. The results of the study suggest that tailor -made treatment strategies are necessary to minimize side effects and at the same time ensure the effectiveness of the treatments.

summarized, research was a significant progress in the study of Wilms tumors. With these knowledge, not only could the early diagnosis be improved, but also the management of the disease could be adapted. The original publication appeared in the journal Cancer Discovery .