Primary Central Nervous System Neoplasm

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

Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two alterations were found in the PTPN11 (aka SHP-2) gene, encoding a RAS-MAPK-related adaptor protein and phosphatase. Both alteratio… (full text at CIViC)

PMID 23817572 · Jones et al., 2013 · Open in CIViC

144 cases (discovery set: N=62 discovery; independent validation set: N = 82) of meningiomas were analyzed for transcriptional features defining aggressive clinical course (recurrent, malignantly prog… (full text at CIViC)

PMID 26894859 · Schmidt et al., 2016 · Open in CIViC

From a retrospective review of 38,095 tumor samples from 33,997 patients that underwent fusion screening at Memorial Sloan Kettering Cancer Center, 87 tumors were found to be positive for an NTRK1, NT… (full text at CIViC)

PMID 31375766 · Solomon et al., 2020 · Open in CIViC

Molecular profiling of 13 patients with polymorphous low-grade neuroepithelial tumor of the young (PLNTY) at Mayo Clinic, identified 1 patient (15 yo female) with a QKI::NTRK2 (e6::e15) fusion.

PMID 34363682 · Ida et al., 2021 · 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

Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

325 ATRTs underwent methylation profiling, revealing three methylation distinct clusters - ATRT-TYR, ATRT-SHH and ATRT-MYC. In the ATRT-TYR subgroup, the characteristic pattern of SMARCB1 loss was of … (full text at CIViC)

PMID 31889194 · Ho et al., 2020 · Open in CIViC

Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

53 pediatric tumors consisting of 20 AT/RT, 10 PNET, and 23 other central nervous system tumors were classified using microscopic diagnosis, and then tested for expression of the SMARCB1 gene product … (full text at CIViC)

PMID 15105654 · Judkins et al., 2004 · Open in CIViC

This study compared cribriform neuroepithelial tumor (CRINET) and atypical teratoid/rhabdoid tumor (AT/RT) to determine whether CRINET is a distinct entity or a variant of AT/RT. The study contained 1… (full text at CIViC)

PMID 27380723 · Johann et al., 2017 · Open in CIViC

This is the first case report of cribriform neuroepithelial tumor (CRINET), a rare brain cancer identified in a 26-month-old girl and a 10-month-old boy, affecting the third and fourth ventricles. His… (full text at CIViC)

PMID 19915490 · Hasselblatt et al., 2009 · Open in CIViC

Saridegib treatment induced tumor reduction and significantly prolonged survival in a Shh-driven mouse medulloblastoma model, and was found to be active in cells with the D473H point mutation.

PMID 22550175 · Lee et al., 2012 · Open in CIViC

In this case report, the D473H mutation was reported as an acquired mechanism of resistance to the hedgehog pathway inhibitor GDC-0449 (vismodegib).

PMID 19726788 · Yauch et al., 2009 · Open in CIViC

Boetto et al used Sanger sequencing to query SMO mutations (W535L and L412F) in 79 confirmed olfactory groove meningiomas and identified 1 patient with W535L (and 21 with L412F).

PMID 28082415 · Boetto et al., 2017 · Open in CIViC

Brastianos et al identified SMO W535L in 2 tumors from a set of 65 meningiomas, notably in meningiomas lacking NF2 alterations and of the meningiothelial subtype. The variants displayed high somatic v… (full text at CIViC)

PMID 23334667 · Brastianos et al., 2013 · Open in CIViC

Analysis of somatic copy number alterations (SCNAs) in 1087 medulloblastoma tumours identified a recurrent tandem duplication of SNCAIP that was restricted to Group 4 medulloblastoma. SNCAIP duplicati… (full text at CIViC)

PMID 22832581 · Northcott et al., 2012 · Open in CIViC

In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a SUFU deletion, SMO inhibition with LDE225 (Sonidegib) did not affect cell proliferation.

PMID 24651015 · Kool et al., 2014 · 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

In patients with initially low-grade IDH-mutant gliomas previously treated with temozolomide, a high tumor mutational burden (TMB-high)/temozolomide-associated hypermutator phenotype was associated wi… (full text at CIViC)

PMID 33823014 · Yu et al., 2021 · 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

This international, multicenter study analyzed patients with medulloblastoma (MB) from both retrospective and prospective cohorts in order to identify consensus MB predisposition genes. A total of 102… (full text at CIViC)

PMID 29753700 · Waszak et al., 2018 · Open in CIViC

In the childhood (≥4.3 years) SHH-MB subgroup, TP53 mutations (n=13) are associated with shorter progression-free survival (PFS) compared to the no mutation group (n=35) (HR, 3.47; 95% CI, 1.29 to 9.3… (full text at CIViC)

PMID 28545823 · Schwalbe et al., 2017 · Open in CIViC

In the evaluation of 275 oligodendroglial tumors, the specific genotype at amino acid 72 of TP53 (Arg/Arg, Arg/Pro, or Pro/Pro) was not associated grade of malignancy (low- vs. high-grade, P = 0.650) … (full text at CIViC)

PMID 17854663 · Idbaih et al., 2007 · 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

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (4 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC