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Early detection of tumor spread improves treatment outcomes
A University of Niigata-led group led in the diagnosis of leptomeningeal disease in diffuse midline gliomas by detecting H3K27M mutant droplets from circulating tumor DNA from cerebrospinal fluids collected from these patients. Two patients were diagnosed with leptomeningenal disease earlier than traditional methods such as MRI and cerebrospinal fluid cytology. In one patient, early and aggressive intervention, including surgery, radiation, and intrathecal delivery of chemotherapy drugs, resulted in long-term survival after diagnosis of leptomeningenal disease. A team led by Dr. Manabu Natsumeda used digital PCR, a highly sensitive PCR system, to detect traces of circulating tumor...
Early detection of tumor spread improves treatment outcomes
A University of Niigata-led group led in the diagnosis of leptomeningeal disease in diffuse midline gliomas by detecting H3K27M mutant droplets from circulating tumor DNA from cerebrospinal fluids collected from these patients. Two patients were diagnosed with leptomeningenal disease earlier than traditional methods such as MRI and cerebrospinal fluid cytology. In one patient, early and aggressive intervention, including surgery, radiation, and intrathecal delivery of chemotherapy drugs, resulted in long-term survival after diagnosis of leptomeningenal disease.
A team led by Dr. Manabu Natsumeda used digital PCR, a highly sensitive PCR system, to detect traces of circulating tumor DNA from these patients' cerebrospinal fluid.
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 as primary central nervous system lymphoma and glioblastoma. “
Dr. Manabu Natsumeda, University of Niigata
"However, by the time we were able to detect mutated tumor DNA, the tumor had often already spread to the cerebrospinal fluid, resulting in leptomeningeal disease. We believe that early diagnosis and treatment of leptomeningeal disease in diffuse midline gliomas can improve survival." Explains Dr. Natsumeda. The results of the study were published online in JournalChildren's blood and canceron January 9, 2025.
Sources:
Shibuma, S.,et al. (2025) Diagnosis of Leptomeningeal Disease in Diffuse Midline Gliomas by Detection of H3F3A K27M Mutation in Circulating Tumor DNA of Cerebrospinal Fluid.Pediatric Blood & Cancer. doi.org/10.1002/pbc.31535.