Central Nervous System Embryonal Tumor

This retrospective study analyzed the role of ASCL1 expression in the overall prognosis of patients with atypical teratoid rhabdoid tumors. ASCL1 expression was found to correlate with superior 5-year… (full text at CIViC)

PMID 25882982 · Torchia et al., 2015 · Open in CIViC

The authors generated genome-wide DNA methylation profiles of 323 tumors with an institutional diagnosis of ‘primitive neuroectodermal tumors of the central nervous system (CNS-PNETs)’, which are hi… (full text at CIViC)

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

10/323 studied high-grade primitive neuroectodermal tumors of the central nervous system (CNS-HGPNETs) clustered together based on their unique methylation profile. 10/10 of those tumors exhibited in… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · 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

This landmark study contributed to the recognition of embryonal tumor with multilayered rosettes (ETMRs) as a distinct entity in the 2016 WHO classification. Previously, ETMRs were included within the… (full text at CIViC)

PMID 19962671 · Li et al., 2009 · Open in CIViC

This study aimed to identify the mechanism underlying overexpression of a miRNA cluster on chromosome 19q13.4 (C19MC) and its oncogenicity in embryonal tumors with multilayered rosettes (ETMRs). Throu… (full text at CIViC)

PMID 24316981 · Kleinman et al., 2014 · Open in CIViC

This cohort study examined the molecular landscape of embryonal tumors with multilayered rosettes (ETMRs) at diagnosis and relapse. ETMRs have previously been shown to frequently (~90%) exhibit amplif… (full text at CIViC)

PMID 31802000 · Lambo et al., 2019 · 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

Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC)

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

Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · 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

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

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