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Published online 11 September 2017
A recent study on Wilms Tumour has identified pathways to genetic mutations that may increase future efficiency in treatment.
In a recent analysis of genes in the most common kind of kidney cancer in children, Wilms tumour, researchers have proposed a genetic framework that can help understanding the cancer.
According to Elizabeth Perlman, professor of pathology and corresponding author to the study, “it is very difficult to therapeutically target over 40 genes that have mutations in Wilms tumour. In the future, targeting two pathways may be more efficient than targeting individual gene mutations.”
The study conducted in the US, Canada, The Netherlands and Saudi Arabia identified genetic mutations in 117 Wilms tumour cases. The common mutations in these cases were then further identified to validate the results.
Perlman says that the study “discovered that over 40 genetic mutations fall into two major categories that involve active cellular processes early in kidney development.”
The researchers “focused on a set of genetic mutations that occurred in more than one of the initial 117 cases and conducted a targeted analysis of these recurrent mutations in a sample of 651 tumours to validate the results. They found that the most common genes mutated in Wilms tumour were TP53, CTNNB1, DROSHA, WT1 and FAM123B,” she says.
Wilms tumour often grows large in kidneys before they are noticed. Using this study, the researchers made it possible to understand the patterns of mutation and to identify the similarities within them.
By studying the different genetic mutations, the scientists found patterns within the mutations by which they can categorize them into two pathways.
The scientists conclude in their paper that the large number of genes with driver mutations identified in Wilms tumour, combined with the relatively small number of gene expression patterns, means that future studies should start targeting individual gene mutations, instead of common processes or pathways, for better efficiency.