Brain Neoplasm

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

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

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

A total of 15 pediatric patients with supratentorial ependymomas harboring YAP1::MAMLD1 fusions were reported. In all 15 cases, YAP1::MAMLD1 fusions were confirmed by RT-PCR and sequencing. In the ma… (full text at CIViC)

PMID 30246434 · Andreiuolo et al., 2019 · Open in CIViC

This is a case report of a 26-year-old male patient who sufferred 3 grand mal seizures and was found to have a left frontal lobe ependymoma with a YAP1::FAM118B fusion. No other genetic alterations we… (full text at CIViC)

PMID 33480048 · Wang et al., 2021 · Open in CIViC

DNA methylation profiling of 500 ependymal tumors identified 9 molecular profiles with 3 occurring in the supratentorial compartment (designated ST EPN). RNA sequencing performed in 7 of the 13 cases… (full text at CIViC)

PMID 25965575 · Pajtler et al., 2015 · 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

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

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

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

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

Ependymoma RELA fusion-positive is a genetically defined ependymoma subtype accepted as a distinct entity in the 2016 WHO classification of CNS tumors. This variant accounts for the majority of suprat… (full text at CIViC)

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

Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC)

PMID 25965575 · Pajtler et al., 2015 · Open in CIViC