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Glioblastomas harboring gene fusions detected by next-generation sequencing

 Ha Young Woo  ;  Kiyong Na  ;  Jihwan Yoo  ;  Jong Hee Chang  ;  Young Nyun Park  ;  Hyo Sup Shim  ;  Se Hoon Kim 
 BRAIN TUMOR PATHOLOGY, Vol.37(4) : 136-144, 2020-10 
Journal Title
Issue Date
Aged ; Aged, 80 and over ; Biomarkers, Tumor / genetics ; Brain Neoplasms / genetics* ; Brain Neoplasms / mortality ; Brain Neoplasms / pathology ; Cytoskeletal Proteins / genetics ; Female ; Gene Fusion / genetics* ; Genetic Association Studies* ; Glioblastoma / genetics* ; Glioblastoma / mortality ; Glioblastoma / pathology ; Glioma / genetics* ; Glioma / mortality ; Glioma / pathology ; High-Throughput Nucleotide Sequencing* ; Humans ; Isocitrate Dehydrogenase / genetics ; Male ; Middle Aged ; Prognosis ; Proto-Oncogene Proteins c-met / genetics* ; Proto-Oncogene Proteins c-ret / genetics ; Receptor-Like Protein Tyrosine Phosphatases, Class 5 / genetics* ; Survival Rate
Fusion ; Glioblastoma ; Glioma ; MET ; Next-generation sequencing
Oncogenic 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.
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1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Park, Young Nyun(박영년) ORCID logo https://orcid.org/0000-0003-0357-7967
Shim, Hyo Sup(심효섭) ORCID logo https://orcid.org/0000-0002-5718-3624
Woo, Ha Young(우하영) ORCID logo https://orcid.org/0000-0002-3078-6484
Yoo, Jihwan(유지환)
Chang, Jong Hee(장종희) ORCID logo https://orcid.org/0000-0003-1509-9800
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