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Glioblastomas harboring gene fusions detected by next-generation sequencing

DC FieldValueLanguage
dc.contributor.author김세훈-
dc.contributor.author박영년-
dc.contributor.author심효섭-
dc.contributor.author우하영-
dc.contributor.author유지환-
dc.contributor.author장종희-
dc.date.accessioned2020-12-01T17:01:56Z-
dc.date.available2020-12-01T17:01:56Z-
dc.date.issued2020-10-
dc.identifier.issn1433-7398-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/180094-
dc.description.abstractOncogenic gene fusions have been reported in diffuse gliomas and may serve as potential therapeutic targets. Here, using next-generation sequencing analysis (Illumina TruSight Tumor 170 panel), we analyzed a total of 356 diffuse gliomas collected from 2017 to 2019 to evaluate clinical, pathological, and genetic features of gene fusion. We found 53 cases of glioblastomas harboring the following oncogenic gene fusions: MET (n = 18), EGFR (n = 14), FGFR (n = 12), NTRK (n = 5), RET (n = 2), AKT3 (n = 1), and PDGFRA fusions (n = 1). Gene fusions were consistently observed in both IDH-wildtype and IDH-mutant glioblastomas (8.8% and 9.4%, p = 1.000). PTPRZ1-MET fusion was the only fusion that genetically resembled secondary glioblastomas (i.e., high frequency of IDH mutation, ATRX loss, TP53 mutation, and absence of EGFR amplification), whereas other gene fusion types were similar to primary glioblastomas (i.e., high frequency of IDH-wildtype, TERT mutation, EGFR amplification, and PTEN mutation). In IDH-wildtype glioblastoma patients, multivariable analysis revealed that the PTPRZ1-MET fusion was associated with poor progression-free survival (HR [95% CI]: 5.42 (1.72-17.05), p = 0.004). Additionally, we described two novel cases of CCDC6-RET fusion in glioma. Collectively, our findings indicate that targetable gene fusions are associated with aggressive biological behavior and can aid the clinical treatment strategy for glioma patients.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherSpringer-Verlag Tokyo-
dc.relation.isPartOfBRAIN TUMOR PATHOLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAged-
dc.subject.MESHAged, 80 and over-
dc.subject.MESHBiomarkers, Tumor / genetics-
dc.subject.MESHBrain Neoplasms / genetics*-
dc.subject.MESHBrain Neoplasms / mortality-
dc.subject.MESHBrain Neoplasms / pathology-
dc.subject.MESHCytoskeletal Proteins / genetics-
dc.subject.MESHFemale-
dc.subject.MESHGene Fusion / genetics*-
dc.subject.MESHGenetic Association Studies*-
dc.subject.MESHGlioblastoma / genetics*-
dc.subject.MESHGlioblastoma / mortality-
dc.subject.MESHGlioblastoma / pathology-
dc.subject.MESHGlioma / genetics*-
dc.subject.MESHGlioma / mortality-
dc.subject.MESHGlioma / pathology-
dc.subject.MESHHigh-Throughput Nucleotide Sequencing*-
dc.subject.MESHHumans-
dc.subject.MESHIsocitrate Dehydrogenase / genetics-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHPrognosis-
dc.subject.MESHProto-Oncogene Proteins c-met / genetics*-
dc.subject.MESHProto-Oncogene Proteins c-ret / genetics-
dc.subject.MESHReceptor-Like Protein Tyrosine Phosphatases, Class 5 / genetics*-
dc.subject.MESHSurvival Rate-
dc.titleGlioblastomas harboring gene fusions detected by next-generation sequencing-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pathology (병리학교실)-
dc.contributor.googleauthorHa Young Woo-
dc.contributor.googleauthorKiyong Na-
dc.contributor.googleauthorJihwan Yoo-
dc.contributor.googleauthorJong Hee Chang-
dc.contributor.googleauthorYoung Nyun Park-
dc.contributor.googleauthorHyo Sup Shim-
dc.contributor.googleauthorSe Hoon Kim-
dc.identifier.doi10.1007/s10014-020-00377-9-
dc.contributor.localIdA00610-
dc.contributor.localIdA01563-
dc.contributor.localIdA01563-
dc.contributor.localIdA02219-
dc.contributor.localIdA02219-
dc.contributor.localIdA04854-
dc.contributor.localIdA04854-
dc.contributor.localIdA05158-
dc.contributor.localIdA05158-
dc.contributor.localIdA03470-
dc.contributor.localIdA03470-
dc.relation.journalcodeJ00397-
dc.identifier.eissn1861-387X-
dc.identifier.pmid32761533-
dc.identifier.urlhttps://link.springer.com/article/10.1007/s10014-020-00377-9-
dc.subject.keywordFusion-
dc.subject.keywordGlioblastoma-
dc.subject.keywordGlioma-
dc.subject.keywordMET-
dc.subject.keywordNext-generation sequencing-
dc.contributor.alternativeNameKim, Se Hoon-
dc.contributor.affiliatedAuthor김세훈-
dc.contributor.affiliatedAuthor박영년-
dc.contributor.affiliatedAuthor박영년-
dc.contributor.affiliatedAuthor심효섭-
dc.contributor.affiliatedAuthor심효섭-
dc.contributor.affiliatedAuthor우하영-
dc.contributor.affiliatedAuthor우하영-
dc.contributor.affiliatedAuthor유지환-
dc.contributor.affiliatedAuthor유지환-
dc.contributor.affiliatedAuthor장종희-
dc.contributor.affiliatedAuthor장종희-
dc.citation.volume37-
dc.citation.number4-
dc.citation.startPage136-
dc.citation.endPage144-
dc.identifier.bibliographicCitationBRAIN TUMOR PATHOLOGY, Vol.37(4) : 136-144, 2020-10-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers

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