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Clinical impact of targeted amplicon sequencing for meningioma as a practical clinical-sequencing system

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タイトル: Clinical impact of targeted amplicon sequencing for meningioma as a practical clinical-sequencing system
著者: Yuzawa, Sayaka 著作を一覧する
Nishihara, Hiroshi 著作を一覧する
Yamaguchi, Shigeru 著作を一覧する
Mohri, Hiromi 著作を一覧する
Wang, Lei 著作を一覧する
Kimura, Taichi 著作を一覧する
Tsuda, Masumi 著作を一覧する
Tanino, Mishie 著作を一覧する
Kobayashi, Hiroyuki 著作を一覧する
Terasaka, Shunsuke 著作を一覧する
Houkin, Kiyohiro 著作を一覧する
Sato, Norihiro 著作を一覧する
Tanaka, Shinya 著作を一覧する
発行日: 2016年 7月
出版者: Nature Publishing Group
誌名: Modern pathology
巻: 29
号: 7
開始ページ: 708
終了ページ: 716
出版社 DOI: 10.1038/modpathol.2016.81
抄録: Recent genetic analyses using next-generation sequencers have revealed numerous genetic alterations in various tumors including meningioma, which is the most common primary brain tumor. However, their use as routine laboratory examinations in clinical applications for tumor genotyping is not cost effective. To establish a clinical sequencing system for meningioma and investigate the clinical significance of genotype, we retrospectively performed targeted amplicon sequencing on 103 meningiomas and evaluated the association with clinicopathological features. We designed amplicon-sequencing panels targeting eight genes including NF2 (neurofibromin 2), TRAF7, KLF4, AKT1, and SMO. Libraries prepared with genomic DNA extracted from PAXgenefixed paraffin-embedded tissues of 103 meningioma specimens were sequenced using the Illumina MiSeq. NF2 loss in some cases was also confirmed by interphase-fluorescent in situ hybridization. We identified NF2 loss and/or at least one mutation in NF2, TRAF7, KLF4, AKT1, and SMO in 81 out of 103 cases (79%) by targeted amplicon sequencing. On the basis of genetic status, we categorized meningiomas into three genotype groups: NF2 type, TRAKLS type harboring mutation in TRAF7, AKT1, KLF4, and/or SMO, and 'not otherwise classified' type. Genotype significantly correlated with tumor volume, tumor location, and magnetic resonance imaging findings such as adjacent bone change and heterogeneous gadolinium enhancement, as well as histopathological subtypes. In addition, multivariate analysis revealed that genotype was independently associated with risk of recurrence. In conclusion, we established a rapid clinical sequencing system that enables final confirmation of meningioma genotype within 7 days turnaround time. Our method will bring multiple benefits to neuropathologists and neurosurgeons for accurate diagnosis and appropriate postoperative management.
資料タイプ: article (author version)
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 湯澤 明夏


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