Aims: The identification of genomic/genetic alterations in brain tumors (gliomas) and analysis of their clinicopathological significance. Brain tumors are diseases with a very poor prognosis and recurrence is almost inevitable even with multidisciplinary treatment. Therefore, it is important to elucidate genetic aberrations associated with the development or malignant transformation of brain tumors. In this study, we will comprehensively analyze molecular landscapes in brain tumors. We will also investigate how these are involved in the response to various therapies to establish new molecular therapies for brain tumors. In addition, we will develop new diagnostic methods and biomarkers by comparing clinicopathological information with molecular profiles and analyze the relationship between diagnosis, prognosis prediction, and therapeutic response prediction using bioinformatics and artificial intelligence.

Methods: Exome sequencing, RNA sequencing and Methylation array were performed. Matched normal DNA was also used for Exome sequencing. Targeted DNA sequencing for vascular malformation samples was conducted to investigate somatic mutations. FLeCS-seq, SMART-seq, RNA-seq, short-read WGS, and ultralong-read WGS analyses for normal left frontal lobe tissues were performed.

Targets: Surgical specimen obtained from 6 patients with astrocytoma (primary and matched recurrent samples) and paired normal peripheral blood cells (total: 23 samples). Surgical specimen obtained from 16 patients with oligodendroglioma (12 primary and matched recurrent samples, 8 samples obtained from 4 patients by multi-sampling) Surgical specimen obtained from patients with gliomas (17 patients with diffuse cerebellar glioma, 8 patients with cerebral glioblastoma and 14 patients with thalamic glioma) Surgical specimen obtained from 94 patients with gliomas, including primary and matched recurrent samples (total 114 samples) and paired normal blood cells Twelve cerebral cavernous malformations, 1 vertebral hemangioma, 3 orbital cavernous malformations, and respective paired peripheral blood samples Normal left frontal lobe tissues from a patient with glioma