New genetic test could improve treatment of children’s kidney cancer

Genetic testing of tumours could enable doctors to identify children most at risk of relapsing from kidney cancer, suggests research from the UCL Institute of Child Health, research partner of Great Ormond Street Hospital.

The work, which shows a link between a genetic change and cancer returning after a first round of treatment, could allow clinical teams to make decisions early on about different treatments for certain patients in order to combat the disease.

The project is one of over 1000 projects being carried out at Great Ormond Street Hospital and the UCL Institute of Child Health as part of their research programme, which aims to develop treatments and cures for conditions affecting children and adolescents. It is also part of Great Ormond Street Hospital Children’s Charity’s commitment to support research in to some of the rarest and most complex childhood diseases.

Wilms’ tumour is a childhood cancer that can affect one or both kidneys. Around 80 new cases are diagnosed each year in the UK and most can be treated effectively using a combination of surgery, chemotherapy, and radiotherapy. In a number of patients, however, the cancer can come back and chances of long term survival then fall to 50%.

Currently, doctors look at how far the tumour has spread and its response to pre-operative chemotherapy in order to identify some of the children who are at highest risk of their cancer returning. They can then put in place more intensive treatment plans for these individuals to try and reduce the chances of relapse. But, there are still a number of children who cannot be identified using these methods and therefore there is a need for more effective tests.

Now, writing in the Journal of Clinical Oncology, a European collaboration led by Professor Kathy Pritchard-Jones of the UCL ICH, and funded by Great Ormond Street Hospital Children’s Charity, Cancer Research UK, Children with Cancer in the UK, have discovered a genetic error that may identify more patients with Wilms’ tumour who are at risk of relapse.

In a study of nearly 600 patients, they find that those who had a genetic addition on chromosome 1, known as 1q gain, were more likely to have recurrence of disease in the five-years after initial treatment.

Professor Pritchard-Jones says: “We’re hopeful that testing tumours for this genetic change, alongside current tests we run, will allow us to more accurately select the best treatment strength for each child with Wilms’ tumour, potentially saving lives and reducing side effects.

“This new research once again highlights how important a tool our genes can be in helping decide on the best treatment for each individual person.”

Professor Pam Kearns, Cancer Research UK’s children’s cancer expert, said: “This research could help doctors identify children with cancers that are more resistant to treatment by giving doctors more information about the disease at an early stage. The next step is to develop more effective treatments for these patients.

“Many children who survive cancer will live with the long-term side effects of their treatment that can have an impact throughout their adult lives. It’s vital that we find ways to diagnose and treat sooner as well as finding kinder and effective treatments for all children diagnosed with cancer.”

Jack, 14, had Wilms tumour when it was less than a year old. His mum tells us his story:

“When Jack was about 8 months old, I noticed his stomach was abnormally shaped and the veins were more prominent on one side than the other. His development also seemed to be behind. All my friends’ kids were rolling over and crawling and Jack wasn’t and so I thought ‘something isn’t right here.’

“When he was 13 months old – on April fool’s day – we saw a doctor at our local hospital in Basildon who checked him and told they’d found a mass. ‘Do you mean cancer?’ I asked and they just nodded. They explained that he had Wilms tumour. We had never heard of Wilms tumour and to us it was the worst thing ever. We didn’t know what it meant for Jack but you hear the word cancer and it worries you.

“We were sent straight to GOSH. The doctors and nurses were brilliant and explained that that needed to do surgery to remove Jack’s tumour and then probably give him chemotherapy and radiotherapy to make sure they had removed all the cancer. They wanted to try and take out the tumour whole but because of its size they needed to remove his left kidney at the same time. I remember seeing the size of the tumour on a CT scan and it was scary how big it was – it was absolutely massive!

"Luckily, they managed to remove the whole tumour during surgery and it meant that Jack didn’t need any chemotherapy or radiotherapy afterwards.

"The effects were amazing and within a couple of weeks of him having the operation he was crawling and walking. It was as if his tumour was so big that it had been pulling him to one side until then.

"Since then, Jack’s had regular check-ups and scans, which he will have until he’s 18, and so far his results have been good and the doctors are very happy. Apart from a scar down his stomach, he has no long lasting effects from his treatment.

"He now leads a normal 14-year-old’s life and there’s nothing he can’t do. He plays football and is very active. He started playing for a new football team a year ago and was recently voted the Players’ Player of the Year. It’s lovely to see how he is now – people forget he had cancer when he was little. To look at him you’d think he was always a healthy lad.

"If genetic tests had been available when Jack started treatment, we would have had them done. When he was first diagnosed, we didn’t know if we were going to have a son at the end of it and so anything that could have reduced the uncertainty would have been a good thing.

"We sadly lost Jack’s younger brother, Harry, to another type of cancer when he was two and so we know first-hand that not all children are lucky enough to be treated successfully like Jack."