Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 AlteredExpression disease BEFREE Integrating anti-MYCN ChIP-seq and gene expression profiles of neuroblastoma patients revealed the metabolic enzymes, MTHFD2 and PAICS, required for one-carbon metabolism and purine biosynthesis were concomitantly upregulated, which were more susceptible to metastatic neuroblastoma. 31624245 2019
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE A total of 26 patients with refractory (n = 5), metastatic relapsed (n = 20), or locally relapsed MYCN-positive (n = 1) NBL received a median of 17 × 10<sup>6</sup>/kg T/B cell-depleted CD34<sup>+</sup> stem cells with 68 × 10<sup>3</sup>/kg residual T cells and 107 × 10<sup>6</sup>/kg natural killer cells. 29307718 2018
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE MYCN controls an alternative RNA splicing program in high-risk metastatic neuroblastoma. 26683771 2016
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE We report a neonate with an adrenal stage 4S neuroblastoma with a small focus of MYCN-amplified cells within a nonamplified background. 23528904 2014
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 AlteredExpression disease BEFREE Overexpression of N-Myc leads to transcriptional activation and an increase in NB cell proliferation. 24403858 2013
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE Tumors with MYCN amplification show a lower chromosome instability compared to MYCN single-copy NBs (P = .0008), dominated by 17q gain and 1p loss. 23019414 2012
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblastoma (a SIOPEN collaborative study). 22146831 2011
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE We could not confirm the presence of a specific methylation profile in disseminated neuroblastoma tumour cells, but a high accumulation of epigenetic events in those cells is associated with a high risk of relapse, independently of MYCN amplification. 20140741 2010
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE An asymptomatic 11-week-old male received no treatment after he was classified as having a suspected atypical form of MYCN-nonamplified hyperdiploid stage 4S neuroblastoma (NB), with masses in an adrenal gland, subcutaneous tissues, and the falx cerebri. 19711437 2009
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE MYCN-non-amplified metastatic neuroblastoma with good prognosis and spontaneous regression: a molecular portrait of stage 4S. 19383347 2008
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE We describe a 4-week-old neonate with MYCN-amplified stage 4S NB complicated by gross hepatomegaly causing rapidly progressive respiratory, hepatic, and renal failure. 15926157 2006
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE Children 12 to 18 months old with metastatic NB had favorable outcomes with high-dose therapy if their tumors were hyperdiploid and lacked MYCN amplification. 16116152 2005
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 AlteredExpression disease BEFREE Overall, our data indicate that MYCN overexpression increment contributes to the acquired drug resistance that occurs throughout the NB metastatic process. 12819037 2003
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE MYCN gain and MYCN amplification in a stage 4S neuroblastoma. 12645655 2003
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 GeneticVariation disease BEFREE We report, for the first time, a rearrangement within the MYCN coding region in a metastatic neuroblastoma in a 3-year-old boy with MYCN amplification in his primary tumor. 11385318 2001
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 GeneticVariation disease BEFREE Use of a prognostic staging system based on tumor cell ploidy, augmented with the NMYC gene copy number and serum level of lactate dehydrogenase, would very likely improve the treatment of infants with unresectable or metastatic neuroblastoma. 9060959 1997
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.100 Biomarker disease BEFREE Risk estimation of high discriminating power is, therefore, possible for patients with localised and metastatic neuroblastoma using stage and MYCN. 7576963 1995