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非小細胞肺癌に対する高速シークエンサーを用いた包括的遺伝子変異検索システム
https://saitama-med.repo.nii.ac.jp/records/628
https://saitama-med.repo.nii.ac.jp/records/6289c1d943e-1b5e-4e98-b694-435a13d52d4d
名前 / ファイル | ライセンス | アクション |
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論文内容の要旨 (100.3 kB)
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論文審査の結果の要旨 (95.0 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2018-05-30 | |||||
タイトル | ||||||
タイトル | 非小細胞肺癌に対する高速シークエンサーを用いた包括的遺伝子変異検索システム | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | A highly specific and sensitive massive parallel sequencer-based test for somatic mutations in non-small cell lung cancer. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Carcinoma, Non-Small-Cell Lung | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Cryopreservation | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | DNA Mutational Analysis | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Humans | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Lung Neoplasms | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Mutation | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Research Design | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Software | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_46ec | |||||
資源タイプ | thesis | |||||
著者 |
井上, 慶明
× 井上, 慶明× Inoue, Yoshiaki |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Molecular targeting therapy for non-small cell lung cancer (NSCLC) has clarified the importance of mutation testing when selecting treatment regimens. As a result, multiple-gene mutation tests are urgently needed. We developed a next-generation sequencer (NGS)-based, multi-gene test named the MINtS for investigating driver mutations in both cytological specimens and snap-frozen tissue samples. The MINtS was used to investigate the EGFR, KRAS, BRAF genes from DNA, and the ERBB2, and the ALK, ROS1, and RET fusion genes from RNA. We focused on high specificity and sensitivity (≥0.99) and even included samples with a cancer cell content of 1%. The MINtS enables testing of more than 100 samples in a single run, making it possible to process a large number of samples submitted to a central laboratory, and reducing the cost for a single sample. We investigated 96 cytological samples and 190 surgically resected tissues, both of which are isolated in daily clinical practice. With the cytological samples, we compared the results for the EGFR mutation between the MINtS and the PNA-LNA PCR clamp test, and their results were 99% consistent. In the snap-frozen tissue samples, 188/190 (99%) samples were successfully analyzed for all genes investigated using both DNA and RNA. Then, we used 200 cytological samples that were serially isolated in clinical practice to assess RNA quality. Using our procedure, 196 samples (98%) provided high-quality RNA suitable for analysis with the MINtS. We concluded that the MINtS test system is feasible for analyzing "druggable" genes using cytological samples and snap-frozen tissue samples. The MINtS will fill a needs for patients for whom only cytological specimens are available for genetic testing. | |||||
学位名 | ||||||
学位名 | 博士(医学) | |||||
学位授与機関 | ||||||
学位授与機関名 | 埼玉医科大学 | |||||
学位授与年度 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 平成29年度 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2018-03-23 | |||||
学位授与番号 | ||||||
学位授与番号 | 32409甲第1376号 | |||||
掲載誌名 | ||||||
関連名称 | PLoS ONE | |||||
掲載誌情報 | ||||||
識別子タイプ | URI | |||||
関連識別子 | http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0176525 | |||||
関連名称 | 出版社サイト |