Glioblastoma

Two siblings (6 and 3.5 years) from nonconsanguineous parents were diagnosed with glioblastoma multiforme. Both tumors harbored TP53 mutations and lack of MGMT promoter hypermethylation as poor progno… (full text at CIViC)

PMID 27001570 · Bouffet et al., 2016 · Open in CIViC

Case report of a patient with glioblastoma multiforme and POLE germline mutation. The patient was treated with pembrolizumab and lymphocyte infiltration was noted after resection of a spinal metastasi… (full text at CIViC)

PMID 27683556 · Johanns et al., 2016 · Open in CIViC

In this preclinical study, the EGFR inhibitor dacomitinib had an effect on cell viability, self-renewal and proliferation in EGFR amplified GBM cells in-vitro and in-vivo (with or without the EGFRvIII… (full text at CIViC)

PMID 25939761 · Zahonero et al., 2015 · Open in CIViC

49 patients (26 pretreatment tissues available for analysis) with recurrent glioblastomas who were treated with EGFR TKIs were analyzed in this study. Results were confirmed in an independent cohort o… (full text at CIViC)

PMID 16282176 · Mellinghoff et al., 2005 · Open in CIViC

Rasheed et al. identified that PTEN mutations occur with significantly greater frequency in adults with high-grade gliomas (42 adult glioblastoma multiforme and 13 adult anaplastic astrocytoma) compar… (full text at CIViC)

PMID 9331072 · Rasheed et al., 1997 · Open in CIViC

In this multicenter, open-label, multi-arm, phase 2 trial, 65 patients with PI3K pathway aberrations (defined by PTEN and pAKT IHC-Status in 95%, genomic testing in 5%) were treated with the PI3K inhi… (full text at CIViC)

PMID 30715997 · Wen et al., 2019 · Open in CIViC

Bostrom et al identified R173C in the tumor sample of 1 subject (out of 36 glioblastomas tested). By PCR mRNA expression of PTEN was assayed for tumor samples harboring PTEN variants. PTEN expression… (full text at CIViC)

PMID 9426052 · Boström et al., 1998 · Open in CIViC

Fults et al identified 1 R173C mutation in a glioblastoma (of 45 tested). The tumor also displayed either all or partial LOH of 10q, there was no further resolution of the LOH size or mutational testi… (full text at CIViC)

PMID 9499454 · Fults et al., 1998 · Open in CIViC

PTEN nonsense mutations, including R233*, have been shown to be inactivating and loss-of-function, but do not have prognostic value in glioblastoma multiforme patients.

PMID 22479427 · Carico et al., 2012 · Open in CIViC

A panel of 21 glioblastoma cell lines harboring various mutations was treated with palbociclib. 16 of the cell lines with intact Rb showed decreased proliferation (bromodeoxyuridine incorporation, Brd… (full text at CIViC)

PMID 20354191 · Michaud et al., 2010 · Open in CIViC

Gefitinib resistant clones were subject to RNAseq and the expression of several genes was found to be upregulated. These genes are mainly tyrosine kinase receptors and include ROS1, DDR1 and PDGFRA. T… (full text at CIViC)

PMID 25978031 · Aljohani et al., 2015 · Open in CIViC

SEC61G::EGFR fusion identified in 4 out of 164 (2.4%) glioblastoma tumors (TCGA GBM working group, patient samples with pathobiology data). Fusion transcripts were confirmed by RNA-seq and were freque… (full text at CIViC)

PMID 24120142 · Brennan et al., 2013 · Open in CIViC

TCGA pan-cancer data analysis of 9,624 tumors across 33 tumor types identified 25,664 fusions. Significantly associated gene fusion and increased expression level (by RNAseq compared to samples withou… (full text at CIViC)

PMID 29617662 · Gao et al., 2018 · Open in CIViC

Antisecretory factor (AF) induction by the SPC diet or Salovum in GBM xenografts (GBM43, GBM6) reduced NKCC1-mediated chloride influx, chloride permeability, and blocked regulatory volume increase in … (full text at CIViC)

PMID 29431617 · Ilkhanizadeh et al., 2018 · Open in CIViC

Evaluation of 25 Korean patients with primary glioblastomas, individuals with TERT promoter mutations (N=16) had worse overall survival (median 81.7 weeks [95% confidence interval (CI), 61.71–101.85])… (full text at CIViC)

PMID 29344264 · Jeong et al., 2017 · Open in CIViC

Surgical samples from 25 Korean patients with primary glioblastomas were disassociated for cell culture and evaluated for TERT promoter mutations (N=16 mutant, N=9 wildtype). All patients harbored the… (full text at CIViC)

PMID 29344264 · Jeong et al., 2017 · Open in CIViC

TERT promoter mutations are activating and commonly found at two hotspots within the TERT promoter region which occur 124 and 146 base pairs (hg19) upstream of the translation start site. These hotspo… (full text at CIViC)

PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC

In 187 patients with glioblastoma, those with TERT promoter mutations had worse cummulative survival than wild-type patients. The most common mutation was C228T (73% of mutants) followed by C250T (27%… (full text at CIViC)

PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC

In 50 patients with primary glioblastomas, patients without TERT promoter mutations (N=13, median 27 mo) survived longer than those harboring mutations (N=37, 14 mo; P = 0.01 by the log rank test; HR … (full text at CIViC)

PMID 23530248 · Killela et al., 2013 · Open in CIViC

mutants in diverse tumor types activate different p53 target genes, but some may give rise to the same GoF phenotype. 12,13 For example, M237I, in glioblastoma, and R282W, in lung cancer, trigger chem… (full text at CIViC)

PMID 29260852 · Silva et al., 2018 · Open in CIViC

The glioblastoma T98G cell line possesses a TP53 M237I variant. This cell line initially exhibited resistance to temozolomide treatment, but a five-fold increase in chemosensitivity (IC50 112.15 ug/ml… (full text at CIViC)

PMID 24248532 · Wang et al., 2014 · Open in CIViC

In a trial of 68 glioblastoma patients treated with either temozolomide or semustine, 24 patients were found to have TP53 mutations at codons 175, 248, or 273. Patients with TP53 mutation were found t… (full text at CIViC)

PMID 24248532 · Wang et al., 2014 · Open in CIViC

In a trial of 68 glioblastoma patients treated with either temozolomide or semustine, 24 patients were found to have TP53 mutations at codons 175, 248, or 273. Kaplan-Meier analysis of the 35 patients… (full text at CIViC)

PMID 24248532 · Wang et al., 2014 · Open in CIViC

The glioblastoma U138 cell line possesses a TP53 R273H variant. This cell line initially exhibited resistance to temozolomide treatment, but a four-fold increase in chemosensitivity (IC50 127.79 ug/ml… (full text at CIViC)

PMID 24248532 · Wang et al., 2014 · Open in CIViC

A 9-month-old boy with no family history of cancer presented with increased head circumference, and MRI demonstrated a solid lesion in the left frontal lobe. A subtotal surgical resection was performe… (full text at CIViC)

PMID 35034013 · Mançano et al., 2022 · Open in CIViC

We found that high VEGF expression (mean positive area > 5,000 pixels/×400 field) was associated with increased likelihood of achieving radiographic response (P = .024; Table 2).

PMID 18182667 · Sathornsumetee et al., 2008 · Open in CIViC

In a clinical study including 12 patients already treated with bevacizumab, high levels of plasma VEGF-121 decrease the OS and the PFS (p = 0.0246 and p = 0.0295) compared to low level of expression.

PMID 29747600 · Martini et al., 2018 · Open in CIViC

Expression of WDR12 was found to be significantly higher in tumour than normal tissue from TCGA LGG and GBM datasets. Kaplan-Meier analysis showed high WDR12 expression to be significantly associated … (full text at CIViC)

PMID 32180229 · Li et al., 2020 · Open in CIViC