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

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Title: Clinical impact of targeted amplicon sequencing for meningioma as a practical clinical-sequencing system
Authors: Yuzawa, Sayaka Browse this author
Nishihara, Hiroshi Browse this author →KAKEN DB
Yamaguchi, Shigeru Browse this author
Mohri, Hiromi Browse this author
Wang, Lei Browse this author
Kimura, Taichi Browse this author →KAKEN DB
Tsuda, Masumi Browse this author →KAKEN DB
Tanino, Mishie Browse this author →KAKEN DB
Kobayashi, Hiroyuki Browse this author
Terasaka, Shunsuke Browse this author →KAKEN DB
Houkin, Kiyohiro Browse this author →KAKEN DB
Sato, Norihiro Browse this author
Tanaka, Shinya Browse this author →KAKEN DB
Issue Date: Jul-2016
Publisher: Nature Publishing Group
Journal Title: Modern pathology
Volume: 29
Issue: 7
Start Page: 708
End Page: 716
Publisher DOI: 10.1038/modpathol.2016.81
PMID: 27102344
Abstract: 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.
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 湯澤 明夏

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