Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE RUNX1 is essential for differentiation of blood cells, especially B cells; thus, hypermethylation of the RUNX1 promoter in B-cell precursors might be associated with increased incidence of B-cell precursor ALL in DS patients. 31385395 2019
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE A high proportion of ETV6-RUNX1-positive ALL relapses (40%) in our cohort showed a poor response to induction treatment at relapse, and therefore had an indication for hematopoietic stem cell transplantation, demonstrating the need of accurate identification of this subgroup. 31034759 2019
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Here, we report a proteogenomic analysis on matched datasets from genomic profiling, RNA-sequencing, and mass spectrometry-based analysis of >8,000 genes and proteins as well as Hi-C of primary patient samples from hyperdiploid and ETV6/RUNX1-positive pediatric ALL. 30944321 2019
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE This study was aimed to explore the METTL3 and METTL14 expressions in children with ETV6/RUNX1(E/R)-positive acute lymphoblastic leukemia (ALL) and investigate the relation between the METTL3 and METTL14 expressions with clinical features. 31429529 2019
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE RUNX1 is a crucial transcription factor for hematological stem cells and well-known for its association with acute lymphoblastic leukemia (ALL) and acute myelogenous leukemia (AML). 30396184 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE NRAS mutations were associated with a higher frequency of hyperdiploidy (P = 0.01) and lower frequency of ETV6-RUNX1 (P < 0.01), whereas KRAS mutations were associated with younger age (P < 0.01), a higher frequency of KMT2A rearranged (P < 0.01) but no significant difference if infants with ALL were excluded, and inferior event-free survival (66.6% vs. 80.5%, P = 0.04). 28853218 2018
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE In comparison with Western cohorts, the incidence of BCR-ABL1 (5.94%) was much higher in our series, while the occurrence of ETV6-RUNX1 (13.19%) was significantly lower in pediatric B-ALL patients in our study than in Western reports. 30125757 2018
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Patients with ETV6-RUNX1-positive ALL and patients 1 to 6 years of age performed equally well in both arms. 29148893 2018
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL): The spectrum of clonal heterogeneity and its impact on prognosis. 29778230 2018
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Notably, the t(12;21) translocation leading to an ETV6-AML1 fusion gene is the most common genetic alteration found in childhood acute lymphoblastic leukemia. 30341373 2018
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The high risk B-ALL intrachromosomal amplification of chromosome 21, (iAMP21), subtype is characterized by amplification of a region of chromosome 21 that typically encompasses the RUNX1 gene and is associated with poor prognosis. 30005852 2018
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE ETV6/RUNX1-positive childhood acute lymphoblastic leukemia in China: excellent prognosis with improved BFM protocol. 30115129 2018
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Patients with t(12;21)/(ETV6-RUNX1) or hyperdiploidy >50 ALL had the best prognosis; those with a negative MRD on day 19 had a particularly low risk of relapse: 1.9% and 3.8%, respectively. 27560110 2017
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Additional changes were detected in 16/18 (88.8%) ETV6/RUNX1-positive ALL patients with predominant deletion or rearrangement of untranslocated ETV6 allele. 27341996 2017
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Deletion burden varied by subtype, with a lower frequency in high-hyperdiploid and higher frequency in ETV6-RUNX1 fusion ALL. 28202519 2017
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Pathogenesis of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia and mechanisms underlying its relapse. 28418909 2017
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Patients with standard-risk ALL, who received the longest maintenance therapy, had the highest adjusted hazard of second cancer (hazard ratio [HR], intermediate vs. standard risk: 0.16, 95% CI: 0.06-0.43, P < 0.001; HR, high vs. standard risk: 0.09, 95% CI: 0.02-0.49, P = 0.006); no significant effects of protocol, age, or white blood cell count at diagnosis, ALL HeH, or t(12;21)[ETV6/RUNX1] were observed. 28500740 2017
Childhood Acute Lymphoblastic Leukemia
0.400 PosttranslationalModification disease BEFREE In conclusion, we show that ETV6/RUNX1-like ALL is associated with CD27<sup>pos</sup> /CD44<sup>low-neg</sup> immunophenotype and identify ARPP21 deletions to contribute to its specific genomic profile enriched for ETV6 and IKZF1 lesions. 28395118 2017
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE These data infer that IGF2BP1 is a potent regulator of ETV6/RUNX1 mRNA stability and potentially link this evolutionary-highly conserved protein to cell transformation events in ETV6/RUNX1-mediated leukemogenesis of t(12;21)(p13;q22)-positive ALL. 26852652 2016
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Secondary chromosomal aberrations are necessary for development of overt leukemia in t(12;21)/ETV6-RUNX1-positive acute lymphoblastic leukemia (ALL). 27215399 2016
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE The relapse samples retained the translocation of ETV6-RUNX1 relative to the three-way translocation t(8;12;21) at diagnosis, suggesting that the three-way translocation might be an important risk factor for relapse in patients with ETV6-RUNX1-positive ALL and should be further studied. 26711002 2016
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We have recently reported that ETV6/RUNX1 transcript is a target of RNA-binding protein IGF2BP1 in t(12;21)(p13;q22)-positive ALL suggesting a direct role of IGF2BP1 in ETV6/RUNX1-mediated leukemogenesis. 27239736 2016
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Clinical parameters and ETV6-RUNX1 status (using FISH technique) of pALL patients attending the Pediatric Oncology Clinic, King Abdulaziz Medical City, Riyadh from 2006 to 2011 were studied. 26625756 2015
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Our data provide new insight on TEL-AML1 function and may offer a new therapeutic opportunity for B-ALL. 25893288 2015
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE Childhood acute lymphoblastic leukemia (ALL) with t(12;21), which results in expression of the ETV6/RUNX1 fusion gene, is the most common chromosomal lesion in precursor-B (pre-B) ALL. 26580398 2015