Advances in Early Diagnosis of Leptomeningeal Disease in Glioma Patients
A research team from Niigata University has improved the early diagnosis of leptomeningeal disease in diffuse midline gliomas using droplet digital PCR, leading to better patient outcomes.
Niigata, Japan - A research team led by the Department of Neurosurgery at Niigata University's Brain Research Institute has made significant strides in diagnosing leptomeningeal disease in patients with diffuse midline gliomas. They achieved this by detecting H3K27M-mutant droplets from circulating tumour DNA in cerebrospinal fluid samples.
The innovative approach allowed for an earlier diagnosis in two patients compared to traditional methods such as MRI and cerebrospinal fluid cytology. Remarkably, one patient benefited from long-term survival following early and aggressive intervention, which included surgery, radiation, and intrathecal delivery of chemotherapeutic agents.
Dr. Manabu Natsumeda and his team employed droplet digital PCR, a highly sensitive PCR system, to identify small quantities of circulating tumour DNA from cerebrospinal fluid. Dr. Natsumeda remarked, "We found that detecting circulating tumour DNA in the cerebrospinal fluid of diffuse midline glioma patients was more challenging than in other brain tumour patients, such as those with primary central nervous system lymphoma and glioblastoma. However, once we detected the mutant tumour DNA, it often indicated that the tumour had already spread, leading to leptomeningeal disease. We believe that early diagnosis and treatment can enhance survival rates."
The findings from this research were published online in the journal Pediatric Blood and Cancer on January 9, 2025.
