First in the world – a boy cured of terminal brain tumor

Diffuse intrinsic pontine glioma is a type of brain tumor that is highly aggressive and fatal. It primarily affects the brainstem and is most common among the pediatric population. The lack of effective treatments makes this disease one of the leading causes of death related to brain tumors during childhood. Most patients are diagnosed before the age of 7 and have a life expectancy of only 9 months. 13-year-old Lucas from Belgium is the first person in the world to have beat this cancer that, in his case, completely disappeared!

Diffuse intrinsic pontine glioma (DIPG)

It is believed that this type of cancer forms during brain tissue development between the ages of 5 and 10. It is more common in girls and most frequently occurs between the ages of 6 and 9. One of the most convincing theories states that DIPG is related to a histone H3 gene mutation.

The progression of this disease in children is rapid; most symptoms occur less than a month before a doctor’s visit. One of the first symptoms is diplopia, which manifests as double vision. Other symptoms include facial paralysis, ataxia, speech difficulties, and others.

Diagnosis is set by undergoing MRI and biopsy, while the treatment begins with steroids to stabilize the neurological symptoms. Diagnosis is followed by radiotherapy, but unfortunately, the survival outcome hasn’t changed in the last 20 years. New therapeutic possibilities are under exploration, but even the most promising ones require more research.

“Watching your little 2 year old boy’s reaction as he sees his bed being rolled into the radiation therapy bunker, and the machines that monitor him as he sleeps, brought us to tears. It was even harder to watch his eyes roll back as the anesthetic kicked in and as he was swiftly removed from our arms and prepped for treatment as we were ushered out with a bit of urgency.” Tim and Amelia Browne, Lucas’s parents

Lucas – the first person to be cured of DIPG

Lucas was diagnosed with DIPG at 6 years old with a life expectancy of only 1 year. He traveled with his family to France to battle this disease. Lucas then became one of the first participants in the BIOMEDE DIPG medication research. His treatment consisted of the drug Everolimus, which had a strong effect on him from the start. MRI scans showed the brain tumor slowly reducing, while by February of this year, it completely disappeared.

Everolimus is a signaling molecule, mTOR protein kinase inhibitor, that is widely used and researched in antitumor therapy. It inhibits tumor cell growth and causes cell apoptosis. Everolimus also affects the vascular endothelial growth factors, which reduces the tumor blood flow. With these mechanisms, it inhibits cell proliferation, angiogenesis, and glucose uptake.

Besides Lucas, seven other children lived for years after the initial diagnosis, but only Lucas’s tumor entirely disappeared. Biological differences may be the reason for the varying responses to treatment. Lucas’s tumor had a very specific rare mutation that likely caused the response to the drug.

“As unfortunate as we were to have experienced the events we have been through, we feel so privileged and lucky to have a happy and healthy Lucas by our side now.” Tim and Amelia Browne, Lucas’s parents

Future of DIPG treatment

The current scientific goal is to in vitro reproduce the genetic differences found in Lucas’s cells to find out whether that brain tumor can also be destroyed as effectively as his. If the efficiency remains, the next step would be to synthesize a drug that causes that same mutation for a better response to the drug. 

It usually takes around 10 to 15 years to completely form a new drug. Lucas’s story brings hope for a brighter future and progress in the search for a cure for diffuse intrinsic pontine glioma, despite the long road ahead!

Translared by: Lara Mužević