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Genomic Medicine in Central Nervous System TumorsCorresponding author: Akihide KondoDepartment of Neurosurgery, Juntendo University Faculty of Medicine2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, JapanTEL: +81-3-3813-3111 FAX: +81-3-5689-8343 E-mail: knd-aki@juntendo.ac.jp〔Received Aug. 10, 2021〕〔Accepted Aug. 24, 2021〕J-STAGE Advance published date: Nov. 12, 2021Copyright © 2021 The Juntendo Medical Society. This is an open access article distributed under the terms of Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original source is properly credited. doi: 10.14789/jmj.JMJ21-0021-OT There are two main applications of genomic medicine with respect to CNS tumors: awareness and prevention of hereditary and/or familial tumors, and personalized medicine for sporadic tumors in individuals. We need to understand the difference between these two medicinal approaches and the status of genomic medicine in this lecture note.  Firstly, this lecture will show the status of hereditary and familial tumors. The lecture will also explain what medicine has to offer for these tumors and the dangers of taking genetic tests blindly. Next, we will discuss personalized medicine. Recent advances in molecular biology have significantly impacted clinical practice. Molecular biological analysis methods are necessary for the classification of tumors, especially for central nervous system (CNS) tumors. The classification of a tumor indicates its prognosis and grade. The fact that this technology is being used suggests that the clues to treatment will depend on molecular biological properties. However, the treatment of CNS tumors has not progressed compared to changes in diagnostic technique. There are some issues that need to be overcome to develop new therapeutics for CNS tumors, such as the blood-brain barrier and the rarity of epidemiology for CNS tumors. Finally, we will discuss how we are working to overcome this challenge.Juntendo Medical Journal2021. 67(6), 547-552Key words: genome, genomic medicine, central nervous system tumorsReviewsIntroductionGenomic medicine has two important medical implications. One is personalized prevention for patients genetically predisposed to disease, and the other is personalized therapy based on genetic abnormalities of individual tumors. In terms of neoplasms, hereditary and familial tumors are diag-nosed as patients genetically predisposed to tumors, while solitary tumors are covered by the latter, personalized therapy.Hereditary and familial tumorsHereditary diseases complicating central nervous system tumors are listed (Table 1), and often, the tumor driver genes and causative genes have been genetically identified. One of the familial tumors is glioma. Five percent Department of Neurosurgery, Juntendo University Faculty of Medicine, Tokyo, Japanof patients suffering from glioma may have a first- or second-degree relative with a similar tumor. A recent study revealed that mutations in the POT1 member of the telomere shelterin complex have been associated with familial gliomas. Familial oligodendrogliomas have been associated with germline mutations in shelterin-complex genes1).Tumorigenesis can be caused by two mecha-nisms. One is an increasing rate of genetic muta-tions, as typified by Li-Fraumeni and Turcot’s syndromes, which make tumor control difficult. The other is the accumulation of small genetic abnormalities that lead to the failure of tumor control pathways to grow. The latter is character-ized by neurofibromatosis and tuberous sclerosis2). Since the genetic abnormalities that cause these diseases cannot be repaired to date, the main role of medicine is the prevention and early detection 547Akihide KONDO

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