Concurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report.

scientific article

Concurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report. is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

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P356DOI10.3389/FNEUR.2018.00398
P932PMC publication ID6018091
P698PubMed publication ID29971034

P50authorDoron MerklerQ61474533
Thomas MckeeQ70965196
Damian StichelQ106695363
P2093author name stringAndré O von Bueren
Torsten Pietsch
David Capper
Marc Ansari
Moatasem El-Ayadi
Kristof Egervari
Fabienne Gumy-Pause
P2860cites workIdentification of a CpG island methylator phenotype that defines a distinct subgroup of gliomaQ24612429
Molecular subgroups of medulloblastoma: the current consensusQ24615271
Dissecting the genomic complexity underlying medulloblastomaQ24621907
An integrated genomic analysis of human glioblastoma multiformeQ24648860
IDH1 and IDH2 mutations in gliomasQ24648948
IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomasQ24656269
The 2007 WHO classification of tumours of the central nervous systemQ24685772
SWI/SNF chromatin remodeling complexes and cancerQ26998657
Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibitionQ27852966
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumorsQ28294240
Subtypes of medulloblastoma have distinct developmental originsQ28300616
The genetic landscape of the childhood cancer medulloblastomaQ28301196
IDH1 mutation is sufficient to establish the glioma hypermethylator phenotypeQ29617457
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutationsQ30040534
A stem cell-like chromatin pattern may predispose tumor suppressor genes to DNA hypermethylation and heritable silencingQ33268624
Oncogenic roles of SMARCB1/INI1 and its deficient tumorsQ33607443
Hyperfractionated versus conventional radiotherapy followed by chemotherapy in standard-risk medulloblastoma: results from the randomized multicenter HIT-SIOP PNET 4 trial.Q50429593
DNA methylation-based classification of central nervous system tumours.Q52655770
Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system.Q55475385
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlationsQ55670910
Expression of the neurotrophin receptor p75NTR in medulloblastomas is correlated with distinct histological and clinical features: evidence for a medulloblastoma subtype derived from the external granule cell layerQ73614016
Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomasQ34167499
Analysis of the IDH1 codon 132 mutation in brain tumorsQ34873009
IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumorsQ34913026
Deep sequencing identifies IDH1 R132S mutation in adult medulloblastoma.Q35896018
Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroupsQ36460209
Update on the integrated histopathological and genetic classification of medulloblastoma - a practical diagnostic guidelineQ37391485
Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway.Q38339385
IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomasQ42164790
CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomasQ45182713
Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas.Q45953731
Frequent IDH1 mutations in supratentorial primitive neuroectodermal tumors (sPNET) of adults but not children.Q46027326
The whole-genome landscape of medulloblastoma subtypesQ46567834
Human medulloblastomas lack point mutations and homozygous deletions of the hSNF5/INI1 tumour suppressor geneQ48623214
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectmedulloblastomaQ1333608
P304page(s)398
P577publication date2018-06-19
P1433published inFrontiers in NeurologyQ15817039
P1476titleConcurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report
P478volume9

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cites work (P2860)
Q96950584Harmonization of postmortem donations for pediatric brain tumors and molecular characterization of diffuse midline gliomas
Q55456692Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience.
Q95265148Tumor-Suppressive Function of lncRNA-MEG3 in Glioma Cells by Regulating miR-6088/SMARCB1 Axis

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