| Project/Area Number |
15K08658
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Hyogo Medical University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
吉川 良恵 兵庫医科大学, 医学部, 講師 (10566673)
中野 芳朗 兵庫医科大学, 医学部, 教授 (30360267)
小山 英則 兵庫医科大学, 医学部, 教授 (80301852)
大村谷 昌樹 兵庫医科大学, 医学部, 教授 (60398229)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | 悪性中皮腫 / ゲノム不安定性 / マイクロサテライト不安定性（MSI) / BAP1遺伝子 / BAP1症候群 / 3p21領域 / 免疫チェックポイント阻害剤 / BAP１症候群 / ｐ５３欠損 / SETD2遺伝子 / MTAP遺伝子 / 腎細胞がん |
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| Outline of Final Research Achievements |
Somatic deletions and mutations in the BAP1 gene, located in 3p21, is one of the common characteristics of malignant mesotheliomas (MMs). Genomic analysis of the 3p21 region showed genomic instability with many microdeletions. Then, microsatellite instability (MSI) was tested, since MSI-high condition is a good marker of immune checkpoint inhibitors. But none of MM genomes showed MSI-high, suggesting that these inhibitors may not effective. Genomic instability was also detected in other chromosome regions. In several MMs, partial deletions of a gene was detected. Hence, replacement therapy of this gene may be effective for these MMs.
Recently, a few cases with BAP1 germline mutations (BAP1 syndrome) have been reported. These cases developed MMs with better prognosis than sporadic non-hereditary cases, suggesting that germline BAP1 mutations and BAP1-related genes may be new therapeutic targets.
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