Identification of causative genes for hemangioblastoma to elucidate the mechanisms of neovascularization and to develop novel therapeutic strategies
| Project/Area Number |
26670636
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Neurosurgery
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Mukasa Akitake 東京大学, 医学部附属病院, 講師 (90463869)
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| Co-Investigator(Kenkyū-buntansha) |
田中 將太 東京大学, 医学部附属病院, 助教 (80643725)
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| Co-Investigator(Renkei-kenkyūsha) |
SAITO Kuniaki 杏林大学, 医学部, 助教 (50446564)
NAKAMURA Eijiro 京都大学, 医学系研究科, 准教授 (90293878)
NIWA Akira 京都大学, 医学系研究科, 助教 (20546999)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 血管芽腫 / VHL病 / 腫瘍血管新生 / 癌抑制遺伝子 |
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| Outline of Final Research Achievements |
This study aimed to identify novel genes related to neovascularization through genetic analysis of hemangioblastomas, which have remarkable tumor-related vasculature. We collected 32 hemangioblastomas and subjected them to genetic and methylation analysis, mostly of the VHL gene. As a result, we found that 2-hit inactivation of the VHL gene is frequent in both VHL disease-related and sporadic hemangioblastomas. Of special note was that in sporadic cases, VHL inactivation by promoter region methylation and loss of heterozygosity of chromosomes 6 and 10 were more frequent than in VHL disease-related HB. In renal cell carcinoma, which frequently occurs in VHL disease patients, there is often alteration of the PBRM1 and BAP1 genes in addition to the VHL inactivation. However, these gene mutations were not observed in our HB cases.
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Report
(4 results)
Research Products
(21 results)
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[Journal Article] Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan2017
Author(s)
Takayanagi S, Mukasa A, Nakatomi H, Kanno H, Kuratsu JI, Nishikawa R, Mishima K, Natsume A, Wakabayashi T, Houkin K, Terasaka S, Yao M, Shinohara N, Shuin T, Saito N.
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Journal Title
Neurologia medico-chirurgica
Volume: 57
Issue: 2
Pages: 59-65
DOI
NAID
ISSN
0470-8105, 1349-8029
Related Report
Peer Reviewed / Open Access
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[Journal Article] Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.2017
Author(s)
Takayanagi S, Mukasa A, Tanaka S, Nomura M, Omata M, Yanagisawa S, Yamamoto S, Ichimura K, Nakatomi H, Ueki K, Aburatani H, Saito N
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Journal Title
Neuro Oncol.
Volume: 印刷中
Issue: 9
Pages: 1-7
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Integrated genomic analysis for von Hippel-Lindau disease-related2016
Author(s)
Shunsaku Takayanagi, Akitake Mukasa, Masashi Nomura, Shunsuke Yanagisawa, Shota Tanaka,Hirofumi Nakatomi, Hiroyuki Aburatani, Koichi Ichimura, Keisuke Ueki, Nobuhito Saito
Organizer
21st Annual Meeting of the Society for Neuro-oncology
Place of Presentation
Fairmont Scottsdale Princess Hotel (Scottsdale Arizona, USA)
Year and Date
2016-11-19
Related Report
Int'l Joint Research
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