Zhen Wu

TL;DR: The primary outcome of ICH within 5 years of CCM diagnosis was associated with clinical presentation with ICH or new focal neurological deficit (FND) without brain imaging evidence of recent haemorrhage versus other modes of presentation.

TL;DR: The discovery of tumor-specific mutations in PPM1D, encoding wild-type p53–induced protein phosphatase 1D (WIP1), in 37.5% of the BSGs that harbored hallmark H3F3A mutations encoding p.Lys27Met substitutions is defined as a frequent target of somatic mutation and as a potential therapeutic target in brainstem gliomas.

TL;DR: The study indicates that deep sequencing of CSF ctDNA is a reliable technique for detecting tumor-specific alterations in brain stem tumors and may offer an alternative approach to stereotactic biopsy for molecular profiling of brainstem tumors.

TL;DR: Although the K27M mutation was frequently observed in adult brainstem and thalamic glioma, this mutation tended to be associated with a poorer prognosis in brainstem gliomas but not in thalamic gliomers, which may have different molecular targets.

TL;DR: It is indicated that the integration of genetic and epigenetic data can facilitate better understanding of brainstem gliomagenesis and classification, and guide future studies for the development of novel treatments for this disease.