Characteristics of diffuse midline gliomas with positive detection of H3K27M mutations in cerebrospinal fluid

Abstract

Mutations in histone H3K27M are found in over 80% of diffuse midline gliomas (DMGs). Since radical resection of tumors located in the pons is not advocated and even a simple needle biopsy can carry a considerable risk of morbidity, establishment of a reliable liquid biopsy method in these patients is highly anticipated. However, we have previously reported that detection of H3K27M mutations from cerebrospinal fluid (CSF) obtained by lumbar puncture at initial diagnosis can be challenging. In the present report, we introduce two cases of DMG with multiple lesions and disseminating disease, in which H3K27M was detected from CSF and try to clarify what characteristics of brain tumors make it a suitable candidate for liquid biopsy.