A new blood test for pediatric cancer patients that changes the game

Kayne Cook was only 23 months old when a usually happy, healthy toddler began to vomit every day after waking up and became unstable on her feet. His mother, Dani, took him to her local hospital several times in six weeks, only to be told he had virosis or reflux.

Despite having countless neurological symptoms at this time — including balance problems when walking and not speaking — the hospital tried to send them home again when his mother insisted that her son be examined by a pediatrician. He immediately ordered a CT scan that showed a lemon-sized tumor in the toddler’s brain.

“We were told Kayne had matter on her brain,” Mrs. Cook recalled. “That same night we were transported by NETS (Newborn & Pediatric Emergency Transport Service) to a children’s hospital in Sydney.

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Kayne Cook was less than two years old when he was diagnosed with a brain tumor. (Supplied)

Kayne underwent an 11-hour operation to remove the tumor.

“The surgeon later told me that if it stayed, he would have two weeks [to live] at most, “said his mother.

Kayne was diagnosed with an atypical rheumatoid rhabdoid tumor – a very rare brain cancer with a 50 percent chance of survival.

While the surgeon removed all of the tumor and tests showed it did not spread, further treatment was recommended. He underwent an exhausting 18 months of chemotherapy and also six weeks of radiotherapy.

Then, just 14 months after his initial diagnosis, magnetic resonance imaging showed something alarming, and out of fear of relapse, he underwent another operation to remove what turned out to be a scar.

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Kayne and mom Dani during treatment. (Supplied)

Five years after the diagnosis, Kayne’s family was told he had been cured.

Kayne is 11 years old today and remains cancer-free. But unfortunately, the treatment that saved his life also caused him brain damage and extensive disabilities, including neurological problems, mild to moderate hearing loss, mild mental disabilities, speech problems, PTSD and anxiety. He also suffers from weakness on the left side of the body.

While some of the side effects were caused by surgery, chemotherapy, radiotherapy, or a combination, the others were caused by a second brain surgery that proved unnecessary.

Now, a new test will help doctors diagnose and monitor childhood cancer and remove some of the more invasive tests children like Kayne have had to undergo in the past.

It also has the ability to detect cancer cell mutations that can stop treatment, improve and adapt treatment options.

Liquid biopsy program

A liquid biopsy program for children with cancer was launched this month by the Children’s Oncology Institute. This was made possible by a $ 3 million grant from the Australian Cancer Research Foundation (ACRF).

Kayne was considered cured five years after his treatment ended. (Supplied)

The first test of its kind in Australia can monitor treatment reactions and predict relapse and has been described as a “change of play” for more than 1,000 Australian children and young people diagnosed with cancer each year.

Until now accurate cancer diagnosis it could only be performed by surgical biopsy – an invasive and sometimes high-risk procedure for taking a sample of the tumor itself, which can then be tested.

Once children with cancer are diagnosed, they require constant testing to monitor the effectiveness of treatment, but many existing tests are not sensitive enough to identify treatment failures before relapse occurs, when it may be too late.

The program uses a simple blood test to provide a window into the tumor and obtain urgently needed information about the response to treatment and cancer progression.

It can also mean a decrease in the number of invasive tests that children with cancer need.

The test works by identifying the presence and level of circulating tumor cells and / or tumor DNA in the blood of a child with a high level of sensitivity. It can also provide comprehensive genetic information about the tumor itself, which can be used to predict relapse and recommend real-time treatment.

New “game change” test

Professor Michelle Haber, executive director of the Children’s Cancer Institute, said the test had the potential to be a “game change” for children diagnosed with high-risk cancers.

“Liquid biopsy is an extremely exciting development in cancer sampling that has the potential to dramatically improve our ability to create personalized treatment recommendations that give each child the best chance of survival,” she said.

“Currently, when a child is diagnosed with cancer, all the molecular information is gathered from the initial surgical biopsy of the tumor and used to guide treatment.

“But we know that tumor cells can change their biology in response to therapy, so the treatment given at the beginning of the cancer journey may no longer be the best treatment because the tumor cells mutate.

“Therefore, patients often initially respond to treatment but then relapse.

“The ability to take repeated blood samples or ‘liquid biopsies’ to monitor the presence and levels of cancer cells and cancer DNA in the blood over time and to monitor genetic changes in cancer provides valuable information about cancer. and may also reveal signs of impending clinical recurrence before it occurs.

Better treatment protocols

“More importantly, the information gained from the liquid biopsy may indicate better personalized treatment by identifying new molecular targets that have evolved in the tumor as it mutates over time.” .

Professor Haber said the new test would also reduce the number of invasive procedures that children with cancer must undergo.

The program will initially target children with certain cancers, including brain and blood cancers, as well as sarcoma, neuroblastoma and other extracranial solid cancers.

ACRF Director General Kerry Strydom said it would minimize the level of invasive testing that children with cancer undergo, and could also lead to new therapies for some of the most difficult and fatal childhood cancers, as well as improve quality of life. for those children who survive.

Reduces invasive tests and procedures

Dani Cook with Kayne and daughter Selena. (Supplied)

For Ms. Cook, anything that can potentially reduce the number of invasive tests and procedures and limit treatment that doesn’t work but has terrible side effects is a good thing.

“Children with cancer are going through hell,” Mrs. Cook said. “Kayne was so young he didn’t understand why he was being held after procedure.

“He had a central line and was undergoing weekly dressings. He had general anesthesia, lumbar puncture, and chemotherapy injections directly into the spinal cord.”

“In Kayne’s case, the liquid biopsy program allowed them to monitor it with blood tests instead of his second operation.”

Dani Cook with son Kayne, now 11. (Supplied)

Kayne is still undergoing regular check-ups to make sure his tumor has not returned, as well as numerous tests to look for other side effects, such as heart problems caused by treatment.

“Even though he has his problems, he’s a happy and beautiful boy,” Mrs. Cook said. “She loves go-karts, she rides every week.

“It’s one of the few sports he’s done that doesn’t make him feel disabled. He can be a normal child.”

“He’s also the fantastic big brother of his sister Selena (4), who came after his treatment. They love her and he really protects her.”

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