Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Here we generate humanized models for Sonic Hedgehog (SHH)-subgroup MB via MYCN overexpression in primary human hindbrain-derived neuroepithelial stem (hbNES) cells or iPSC-derived NES cells, which display a range of aggressive phenotypes upon xenografting. iPSC-derived NES tumors develop quickly with leptomeningeal dissemination, whereas hbNES-derived cells exhibit delayed tumor formation with less dissemination. 31786016 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Immediate transcriptional changes from this combined MYC blockade were found using RNA-Seq profiling and showed remarkable similarities to changes in MYC target gene expression when MYCN was turned off with doxycycline in our MYCN-inducible animal model for Group 3 MB. 29511348 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 GeneticVariation disease BEFREE Rictor/mTORC2 loss delayed timely differentiation of granule cell precursors (GCPs) during cerebellar development, promoting sustained GCP proliferation and medulloblastoma formation, which recapitulated critical features of TP53 mutant sonic hedgehog (SHH) medulloblastomas with GLI2 and/or N-MYC amplification. 29996106 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 AlteredExpression disease BEFREE Index 2 had diffuse PHOX2B expression, MYCN amplification and no copy number changes of medulloblastoma, in keeping with neuroblastoma. 29758594 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Literature review identifies the poor prognosis of MYCN-amplified medulloblastomas as well as extraneural metastases; we review the current limitations and future directions of medulloblastoma treatment options. 29343221 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Historical risk stratification criteria for medulloblastoma rely primarily on clinicopathological variables pertaining to age, presence of metastases, extent of resection, histological subtypes and in some instances individual genetic aberrations such as MYC and MYCN amplification. 27040285 2016
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE To study this interaction, we investigated a transgenic model of MYCN-driven medulloblastoma and found spontaneous development of Trp53 inactivating mutations. 25533335 2015
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE To better understand the role of MYCN in MB in vitro and in vivo and to aid the development of MYCN-targeted therapeutics we established tumor-derived neurosphere cell lines from the GTML (Glt1-tTA/TRE-MYCN-Luc) genetically engineered mouse model. 25785590 2015
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Using AGDEX analysis and k-means clustering, we show that the Blbp-cre::Ctnnb1(ex3)(Fl/+)Trp53 (Fl/Fl) mouse model fits well to human WNT medulloblastoma, and that, among various Myc- or Mycn-based mouse medulloblastomas, tumors in Glt1-tTA::TRE-MYCN/Luc mice proved to be most specific for human group 3 medulloblastoma. 24871706 2014
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE MYC and MYCN amplification can be reliably assessed by aCGH in medulloblastoma. 23578955 2013
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Furthermore, based on the enrichment of MYCN and GLI2 amplifications in SHH-driven medulloblastoma, amplification of these downstream signaling intermediates should be taken into account before a patient is enrolled into a clinical trial using a smoothened inhibitor. 22160402 2012
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 AlteredExpression disease BEFREE This finding also confirms the importance of impairment of the MYC/MAX/MXD1 axis in the development of aggressive neural tumors, because MYCN overexpression is an established genetic hallmark of malign neuroblastoma, and it is likely that MXI1 plays a relevant role in the development of medulloblastoma and glioblastoma. 22706201 2012
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE This mouse model should significantly accelerate understanding and treatment of the most aggressive form of medulloblastoma and infers distinct roles for MYC and MYCN in tumorigenesis. 22340591 2012
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 AlteredExpression disease BEFREE MYCN is a transcription factor that is expressed during the development of the neural crest and its dysregulation plays a major role in the pathogenesis of pediatric cancers such as neuroblastoma, medulloblastoma and rhabdomyosarcoma. 21731748 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 AlteredExpression disease BEFREE We found that Sna1 directly induced transcription of N-Myc in human medulloblastoma cells and that depletion of N-Myc ablated the Sna1-induced proliferation and transformation. 21646478 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE MYCN-driven MB showed either classic or LCA pathologies, with Shh signaling activated in approximately 5% of tumors, demonstrating that MYCN can drive MB independently of Shh. 20478998 2010
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Whereas MYC/MYCN oncogene amplifications had a high prognostic value in pediatric MB, these aberrations were rarely observed in adult tumors. 20479417 2010
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 GeneticVariation disease BEFREE TP53 mutation status was not associated with unfavorable prognosis (P = .63) and was not linked to 17p allelic loss but was over-represented in the prognostically favorable WNT subgroup of MB as defined by CTNNB1 mutation (seven of 35 TP53-mutated tumors v 14 of 271 TP53 wild-type tumors; P = .005) and in tumors carrying high-level MYCN amplification (seven of 21 TP53-mutated tumors v 14 of 282 TP53 wild-type tumors; P = .001). 21060032 2010
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 GeneticVariation disease BEFREE Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci. 19255330 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Episomal amplification of MYCN in a case of medulloblastoma. 18286303 2008
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 AlteredExpression disease BEFREE MYCN amplification and over-expression has been reported in medulloblastoma, and especially in the desmoplastic type. 15975048 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE Identical analyses were performed in a panel of medulloblastoma cell lines to identify c-Myc targets and to determine the extent to which N-Myc targets and c-Myc targets were shared. 12910530 2003
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE MYCC and MYCN oncogene amplification in medulloblastoma. A fluorescence in situ hybridization study on paraffin sections from the Children's Oncology Group. 11958658 2002
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.400 Biomarker disease BEFREE High expression of MEIS1 without amplification was also found in other neuroblastoma cell lines, with and without MYCN amplification, and in medulloblastoma and crythroleukaemia cell lines. 11094311 2000