Nervous System Neoplasm

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

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

Kaplan-Meier analysis of PLK1 gene expression showed that elevated expression is significantly associated with shorter disease-free survival in GBM (p=9.1e-11).

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

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

A 14-year old patient with bi-allelic PMS2 pathogenic germline variants (c.2 T>A, p.M1K and c.2521del, p.W841Gfs*10) and a diagnosis of constitutional mismatch repair deficiency (CMMRD) was diagnosed … (full text at CIViC)

PMID 38773265 · Palova et al., 2024 · Open in CIViC

This study evaluates the genetic features of melanotic schwannoma (MS). Twelve cases of MS were examined. A hybrid capture-based next-generation sequencing (NGS) assay screened the coding exons for mu… (full text at CIViC)

PMID 26031761 · Wang et al., 2015 · Open in CIViC

In a sonic hedghehog driven medulloblastoma patient derived xenograft harbouring a PTCH1 deletion, SMO inhibition with Sonidegib showed inhibition of proliferation.

PMID 24651015 · Kool et al., 2014 · Open in CIViC

Loss-of-heterozygosity in SHH-driven medulloblastoma was associated with increased PFS under therapy with vismodegib (AKA HhAntag691, GDC0449, GDC-0449). 43 patients total were enrolled for this study… (full text at CIViC)

PMID 26169613 · Robinson et al., 2015 · Open in CIViC

133 sonic-hedghog driven medulloblastomas were sequenced for alterations (WGS or WES). 60 cases exhibited PTCH1 mutations, most of which were likely loss-of-function (spread across the gene and of typ… (full text at CIViC)

PMID 24651015 · Kool et al., 2014 · Open in CIViC

Fusions involving neurotrophic tyrosine receptor kinase (NTRK) genes can promote gliomagenesis. While they varied in histological qualifications, nearly all the fused gliomas implicated a variant of t… (full text at CIViC)

PMID 32665022 · Torre et al., 2020 · 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

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

Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas (PA) were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, A… (full text at CIViC)

PMID 25494863 · Dénes et al., 2015 · Open in CIViC

A germline SDHB c.314T>A variant was found in a 37 year old man with metastatic sympathetic abdominal paraganglioma. The variant was originally classified as a VUS. The loss of SDHB expression on the … (full text at CIViC)

PMID 40213107 · Bernardi et al., 2025 · Open in CIViC

An in-frame duplication of 12 nucleotides resulting in the insertion of 4 amino acids within exon 6 of the SDHB gene was found in a single female case (a 13-year-old) with confirmed paraganglioma. The… (full text at CIViC)

PMID 20193854 · Musil et al., 2010 · 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

RT-PCR in 215 cases of Schwannomas in a diverse cohort resulted in 29 out of 215 harboring SH3PXD2A::HTRA1 fusion (in-frame fusion between SH3PXD2A (exon 6) and HTRA1 (exon 2)). Histological analysis … (full text at CIViC)

PMID 38219951 · Lee et al., 2024 · Open in CIViC

This study described the genomic landscape of sporadic schwannomas. Among the 125 cases, 12 (10%) of them were identified to bear in-frame SH3PXD2A-HTRA1 fusion with RNA-seq. The fusion was found to b… (full text at CIViC)

PMID 27723760 · Agnihotri et al., 2016 · 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