A world-first discovery by University of Otago scientists may change the way children suffering from a rare form of kidney cancer are treated.

Wilms tumor, a kidney cancer with numerous subtypes, is one of the most common cancers of early childhood, usually affecting children younger than age 10 years.

Lead author and Otago PhD candidate Ben Halliday says the researchers uncovered mutations in a gene called TRIM28, which causes a distinctive subtype of Wilms tumor, often affecting children in the first year of their life.

“Until now there has been no good way to diagnose it with certainty. We believe our discovery will give pediatric oncologists the confidence to treat these children with surgery alone.”

“By omitting chemotherapy, the children can avoid further long-term damaging health consequences,” Mr Halliday says.

The study, published in PLoS Genetics, which focused on five children with the Wilms tumor subtype, included two children from one New Zealand family.

“Occasionally, Wilms tumors run in families and our discovery has added to the small list of causes of these familial cancers. The good news is that the families can now test their children and monitor them closely for tumors, allowing for immediate responses if a tumor should arise. In addition, they now know that if a child gets Wilms tumor it will almost certainly be easily curable.”

Senior author Professor Ian Morison, of Otago’s Department of Pathology, believes the study demonstrates the enormous power of the human genome project as it allows for gene sequencing to be carried out easily and cheaply.

State-of-the-art sequencing technology, like what was used in this study, is being applied to many different cancers and genetic conditions to divide diseases into actionable subgroups. This provides accurate diagnoses and can be used to help modify treatment for many rare disorders.

“All of the mutations that we discovered cause complete loss of TRIM28 function, which has never been observed before in cancer.”

“This discovery reveals another way cancer can hijack cell pathways during its growth. Researchers worldwide will find this useful when studying other types of cancer,” Professor Morison says.