Summary: Researchers at Niigata University successfully diagnosed leptomeningeal disease in diffuse midline gliomas by detecting H3K27M-mutant circulating tumor DNA (ctDNA) from cerebrospinal fluid.
- Innovative Diagnostic Approach: The research team used droplet digital PCR to detect H3K27M-mutant circulating tumor DNA in the cerebrospinal fluid, achieving earlier diagnosis of leptomeningeal disease than traditional methods like MRI and cytology.
- Improved Patient Outcomes: Early and aggressive treatment following diagnosis, including surgery, radiation, and intrathecal chemotherapy, resulted in long-term survival for one patient.
- Significant Research Milestone: The study, published in Pediatric Blood and Cancer, highlights the potential of advanced molecular diagnostics in improving the prognosis of patients with diffuse midline gliomas.
Researchers succeeded in the diagnosis of leptomeningeal disease in diffuse midline gliomas by detecting H3K27M-mutant droplets from circulating tumor DNA (ctDNA) of cerebrospinal fluid taken from these patients.
The research group was led by the Department of Neurosurgery, Brain Research Institute, Niigata University.
Diagnosing Leptomeningeal Disease
In two patients, leptomeningeal disease was diagnosed earlier than with traditional methods such as MRI and cerebrospinal fluid cytology. In one patient, long term survival after the diagnosis of leptomeningeal disease by early and aggressive intervention including surgery, radiation, and intrathecal delivery of chemotherapeutic agents led to long term survival.
A team led by Manabu Natsumeda, MD, PhD, used droplet digital PCR, a highly sensitive PCR system, to detect trace amounts of circulating tumor DNA from the cerebrospinal fluid of these patients.
“We found that detecting circulating tumor DNA in the cerebrospinal fluid of diffuse midline glioma patients was more difficult than other brain tumor patients such primary central nervous system lymphoma and glioblastoma,” says Natsumeda. “However, when we were able to detect mutant tumor DNA, often the tumor had already spread to the cerebrospinal fluid, causing leptomeningeal disease. We think that early diagnosis and treatment of leptomeningeal disease in diffuse midline gliomas can improve survival.”
The results of the study were published online in journal Pediatric Blood and Cancer.
Further Reading
Featured image: A photo of Natsumeda lab members, including Dr Satoshi Shibuma (far left) and Manabu Natsumeda, MD, PhD (far right). Photo: Niigata University