Malignant Intracranial Neoplasm

A 67-year-old male with a diagnosis of Glioblastoma multiforme (GBM), IDH-wildtype, WHO grade 4 underwent a craniotomy with gross total resection. A BCR::NTRK2 fusion (ex1::ex17) was detected by compr… (full text at CIViC)

PMID 35673607 · Grogan et al., 2022 · Open in CIViC

Predominantly high-level expression of BRD4 was found in the majority of medulloblastoma cell lines examined (HD-MB3, ONS-76, UW-228, D-341, and D-283); the exception being the Daoy cell line exhibiti… (full text at CIViC)

PMID 24231268 · Henssen et al., 2013 · Open in CIViC

In a series of 54 supratentorial ependymomas with ZFTA::RELA fusions (termed fusions between C11orf95 and RELA at time of publication), homozygous deletion of CDKN2A was found in 9 cases and hemizygou… (full text at CIViC)

PMID 32514758 · Jünger et al., 2020 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC)

PMID 16258095 · Ellison et al., 2005 · Open in CIViC

A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC)

PMID 17172831 · Clifford et al., 2006 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

An analysis of 13 infants with pituitary blastoma (age 7-24 months) demonstrated recurrent DICER1 mutations. Of those with samples available for sequencing, 9 of 9 (100%) had germline DICER1 mutation… (full text at CIViC)

PMID 24839956 · de Kock et al., 2014 · Open in CIViC

This 2021 paper analyzed the outcomes and complications of 17 patients with pituitary blastoma. The median age of diagnosis was 11 months with a range of 2-24 months. Germline DICER1 variants were… (full text at CIViC)

PMID 33236116 · Liu et al., 2021 · Open in CIViC

In patients with glioblastoma multiforme, those with overespression of wild-type EGFR had shorter overall survival.

PMID 14583498 · Shinojima et al., 2003 · Open in CIViC

From UniProt: A chromosomal aberration involving FOXO3 is found in secondary acute leukemias.

PMID 26822237 · Parsons et al., 2016 · Open in CIViC

Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress.

PMID 26822237 · Parsons et al., 2016 · Open in CIViC

In the 2016 study by Sturm et al., the authors performed comprehensive molecular profiling, including DNA methylation arrays, transcriptomics, and genome-wide sequencing, on 323 institutionally diagno… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · Open in CIViC

DNA methylation profiling of 84 tumors initially diagnosed as CNS-PNET identified CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2) as a distinct molecular subgroup, presented in 24% (20/84) of c… (full text at CIViC)

PMID 33536079 · Korshunov et al., 2021 · Open in CIViC

This study presents a series of 81 cases of diffuse hemispheric glioma, H3 G34-mutant (DHG G34m). Cases were noted to have either the histological appearance of a typical glioblastoma (73%) or as prim… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · Open in CIViC

Schwartzentruber et al. performed whole-exome sequencing (WES) on 48 paediatric GBM samples (patients aged 3–20 years, tumour cores containing >90% neoplastic tissue, median 61-fold coverage with 91% … (full text at CIViC)

PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC

This study presents a series of 81 cases of diffuse hemispheric glioma, H3 G34-mutant (DHG G34m). Cases were noted to have either the histological appearance of a typical glioblastoma (73%) or as prim… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · Open in CIViC

G34V is the rarer of the two G34 substitutions identified in this stud by Schwartzentruber et al, with only 1/48 tumours in the primary WES cohort harbouring this variant (sample PGBM16), compared to … (full text at CIViC)

PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC

Whole genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC)

PMID 22286216 · Wu et al., 2012 · Open in CIViC

Whole-genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC)

PMID 22286216 · Wu et al., 2012 · 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

An international multi-institutional study identified108 patients with a methylation profile of supratentorial ependymoma, ZFTA fusion-positive, by whole genome DNA methylation profiling. The study fo… (full text at CIViC)

PMID 37287693 · Ng et al., 2023 · Open in CIViC

In a series of 54 cases of ependymoma diagnosed in children </= 3 years, methylation profiling of all tumours was undertaken as part of a prospective clinical trial (SJYC07 - maximal safe surgical res… (full text at CIViC)

PMID 30976811 · Upadhyaya et al., 2019 · Open in CIViC

In an analysis of 13 cases of supratentorial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependymoma. … (full text at CIViC)

PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC

Group 3 medulloblastomas with MYC amplifications are often associated with large cell/anaplastic histology, young patients, and overall poor prognosis.

PMID 15328187 · Lamont et al., 2004 · Open in CIViC

In a patient derived xenograft from a sonic hedgehog driven medulloblastoma patient, MYCN amplification conferred to resistance to SMO inhibition with Sonidegib. This PDX was shown to be responsive t… (full text at CIViC)

PMID 23291299 · Kim et al., 2013 · Open in CIViC

In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a MYCN amplification, SMO inhibitor Sonidegib did not have an effect on cell proliferation.

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

Patients with tumors expressing high levels of trkC mRNA had significantly longer intervals without disease progression than those with low levels (log-rank, P = 0.03) and a more favorable overall sur… (full text at CIViC)

PMID 7809137 · Segal et al., 1994 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · 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

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

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

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