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

Yuzawa, Sayaka; Nishihara, Hiroshi; Yamaguchi, Shigeru; Mohri, Hiromi; Wang, Lei; Kimura, Taichi; Tsuda, Masumi; Tanino, Mishie; Kobayashi, Hiroyuki; Terasaka, Shunsuke; Houkin, Kiyohiro; Sato, Norihiro; Tanaka, Shinya

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

Yuzawa, Sayaka; Nishihara, Hiroshi; Yamaguchi, Shigeru et al.

Modern pathology, 2016, 29(7), 708-716

Permalink : https://hdl.handle.net/2115/63972

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アクセス権	open access
URI	https://hdl.handle.net/2115/63972
タイトル	Clinical impact of targeted amplicon sequencing for meningioma as a practical clinical-sequencing system
著者	Yuzawa, Sayaka ; Nishihara, Hiroshi ; Yamaguchi, Shigeru ; Mohri, Hiromi ; Wang, Lei ; Kimura, Taichi ; Tsuda, Masumi ; Tanino, Mishie ; Kobayashi, Hiroyuki ; Terasaka, Shunsuke ; Houkin, Kiyohiro ; Sato, Norihiro ; Tanaka, Shinya
著者名 Yuzawa, Sayaka
e-Rad_Researcher 50322805 著者名 Nishihara, Hiroshi
著者名 Yamaguchi, Shigeru
著者名 Mohri, Hiromi
著者名 Wang, Lei
e-Rad_Researcher 90435959 著者名 Kimura, Taichi
e-Rad_Researcher 30431307 著者名 Tsuda, Masumi
e-Rad_Researcher 90360908 著者名 Tanino, Mishie
著者名 Kobayashi, Hiroyuki
e-Rad_Researcher 10447055 著者名 Terasaka, Shunsuke
e-Rad_Researcher 90229146 著者名 Houkin, Kiyohiro
著者名 Sato, Norihiro
e-Rad_Researcher 70261287 著者名 Tanaka, Shinya
言語	英語
発行日	2016-07
出版者	Nature Publishing Group
収録物名	Modern pathology
巻(号)	29(7)
ページ	708-716
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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
PISSN	0893-3952
関連情報	PMID 27102344
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1038/modpathol.2016.81