Neurologia medico-chirurgica
Online ISSN : 1349-8029
Print ISSN : 0470-8105
ISSN-L : 0470-8105
Review Articles
Genome Medicine for Brain Tumors: Current Status and Future Perspectives
Akitake MUKASA
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2020 Volume 60 Issue 11 Pages 531-542


As a result of rapid progress in genome medicine technologies, such as the evolution of DNA sequencing and the development of molecular targeted drugs, the era of precision cancer medicine has begun. In 2019, a nationwide genome medicine system was established and cancer gene panel sequencing began being covered by national health insurance in Japan. However, patients with brain tumors have not benefited much from genome medicine, even though gliomas contain many potential molecular targets, such as alterations in EGFR, IDH1/2, BRAF, and Histone H3K27. Targeted therapies for these molecules are currently under enthusiastic development; however, such attempts have not yet achieved remarkable success. To date, only a limited number of targeted drugs for brain tumors such as immune checkpoint, neurotrophic tyrosine receptor kinase (NTRK), and Bruton tyrosine kinase (BTK) inhibitors are available, and only in limited cases. Several obstacles remain in the development of drugs to treat brain tumors, including the difficulties in conducting clinical trials because of the relatively rare incidence and in drug delivery through the blood–brain barrier (BBB). Furthermore, general problems for numerous types of cancer, such as tumor heterogeneity, also exist for brain tumors. We hope that overcoming these issues could enable precision genome medicine to be more beneficial for patients with brain tumors such as malignant gliomas. In addition, careful consideration of ethical, legal, and social issues (ELSIs) is important as it is indispensable for maintaining good relationships with patients, which is one of the keys for genome medicine promotion.

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© 2020 The Japan Neurosurgical Society

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