At the age of six, Lucas Jemeljanova was diagnosed with diffuse intrinsic pontine glioma (DIPG), an extremely rare and aggressive brain tumor with a survival rate of only 2 percent within five years. Now, at 13 years old, he has made medical history as the first person worldwide to be cured of this deadly cancer. In a groundbreaking clinical trial, Lucas was randomly selected to receive everolimus, a chemotherapy drug typically used for treating kidney, pancreas, breast, and brain cancer. Though not previously successful in treating DIPG, Lucas’s case has demonstrated its potential efficacy in combating this formidable disease.
Lucas exhibited a positive response to the treatment, leading to the gradual disappearance of the tumor. Fast forward seven years, Lucas is now completely free of cancer, having been in remission for the past five years. According to his doctor, Jacques Grill, Lucas has defied all expectations, and his remarkable case provides genuine hope for others facing similar battles.
A year before being diagnosed with DIPG, Lucas, then five years old, was pictured with his parents, Cédric and Olesja, along with his sister, Tatiana.
At the age of eight, Lucas accompanied by his mother, traveled to France to participate in a clinical trial.
Cedric and Olesja brought Lucas to France when he was eight years old to participate in the BIOMEDE trial, one of the pioneering clinical trials exploring potential new treatments for DIPG.
Everolimus functions by inhibiting mTOR, a protein crucial for cancer cell proliferation, angiogenesis, and growth. By impeding these processes, the drug impedes or retards cancer growth, hindering cell reproduction and reducing blood supply to tumor cells.
Approved by the Food and Drug Administration (FDA) for treating various cancers, doctors hesitated to discontinue Lucas’s treatment until a year and a half ago, despite him having ceased taking the drugs by then. Dr. Grill remarked, “I was uncertain when or how to cease treatment, as there was no precedent worldwide.”
“Across a series of MRI scans, I witnessed the complete disappearance of the tumor,” said Dr. Jacques Grill, head of the brain tumor program at the Gustave Roussy Cancer Center in Paris, in an interview with AFP.
The reasons behind Lucas’s remarkable recovery remain elusive.
In the trial, seven other children were deemed “long responders” as they showed no relapses for three years following diagnosis. However, only Lucas experienced complete disappearance of the tumor.
Dr. Grill suggests that the varying responses to the drugs among children may be attributed to the “biological particularities” of their tumors. He notes that Lucas’s tumor harbored an exceptionally rare mutation, potentially rendering its cells significantly more receptive to the drug.
According to the Dana-Farber Cancer Institute, approximately 300 children are diagnosed with DIPG annually, with a median survival of nine months post-diagnosis. Typically affecting children aged between five and nine, these tumors manifest at the base of the brain and the top of the spine, with their exact etiology remaining unknown.
DIPG exerts pressure on the brainstem, specifically the pons, compromising vital functions like breathing, sleeping, and blood pressure regulation. Over time, it impairs cardiac function, respiration, swallowing, vision, and balance. Initial symptoms often include ocular movement difficulties, facial weakness, gait abnormalities, limb tremors, and balance issues.
Lucas’s diagnosis occurred at the age of six, marked by symptoms such as gait disturbances, urinary retention, syncopal episodes, and epistaxis.
Researchers are now striving to replicate the distinctive characteristics observed in Lucas’s cells. Understanding the underlying mechanisms is crucial for replicating his natural response in other patients, as emphasized by Dr. Grill.
To this end, investigators are scrutinizing the genetic aberrations in patients’ tumors and cultivating tumor organoids—artificially grown cell masses resembling organs. By replicating Lucas’s genetic anomalies in these organoids, researchers aim to ascertain if tumors can be eradicated akin to Lucas’s experience.
However, the path forward is arduous. “Finding a drug with similar efficacy as these cellular changes is the next challenge,” remarks Marie-Anne Debily, overseeing the laboratory efforts. Dr. Grill cautions that drug development is a protracted process, typically spanning 10 to 15 years from inception to fruition.
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