| Project/Area Number |
26461168
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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 |
Respiratory organ internal medicine
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| Research Institution | Nippon Medical School |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
弦間 昭彦 日本医科大学, 医学部, 教授 (20234651)
清家 正博 日本医科大学, 医学部, 教授 (30366687)
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| Co-Investigator(Renkei-kenkyūsha) |
YAMADA Tesshi 国立がん研究センター (30221659)
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| Project Period (FY) |
2014-04-01 – 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 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | 次世代シーケンサー / 肺神経内分泌腫瘍 / 遺伝子変異 / 融合遺伝子 / 肺カルチノイド |
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| Outline of Final Research Achievements |
The aim of this study is to identify gene alterations can be linked to therapeutic target in pulmonary neuroendocrine tumor using next-generation sequencers. We performed the comprehensive whole exon and RNA sequencing of 25 fresh frozen tissue samples (21 typical carcinoid and 4 atypical carcinoid) using Illumina HiSeq 2000. We found 8 novel fusion transcripts including one derived from chromosomal translocation between the TRIB2 and PRKCE genes. In addition, we identified a total of 139 gene alterations. Interestingly, we also detected mutations in mucin genes (MUC2, MUC4 and MUC6). All the 8 fusion genes and MUC4 gene mutation were obtained from post-operative recurrence of PCs tumor.
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