Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The <i>ERG</i> risk genotype was underrepresented in ALL with the <i>ETV6-RUNX1</i> fusion (<i>P</i> < .0005) but enriched in the <i>TCF3-PBX1</i> subtype (<i>P</i> < .05). 30510082 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 Common CNAs involved CDKN2A/2B (30.3%), IKZF1 (27.3%), PAX5 (9.1%), RB1 (9.1%), BTG1 (6.7%), and ETV6 (6.7%), which regulate cell cycle, B lymphopoiesis, or act as tumor suppressors in ALL. 31112375 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Three out of 57 patients (5.3%) harbored confirmed germline mutations that were likely causal, in NBN, ETV6, and FLT3, with an additional six patients (10.5%) harboring putative predisposing mutations that were rare in unselected individuals (<0.01% allele frequency in the Exome Aggregation Consortium, ExAC) and predicted functional (scaled CADD score ≥ 20) in known or potential ALL predisposition genes (SH2B3, CREBBP, PMS2, MLL, ABL1, and MYH9). 31102422 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 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 Biomarker disease BEFREE Phosphatase of regenerating liver-3 <i>(PRL-3/PTP4A3)</i> is upregulated in multiple cancers, including BCR-ABL1- and ETV6-RUNX-positive acute lymphoblastic leukemia (ALL). 29423065 2018
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE We did not find the AIF1L-ETV6 and ABL1-AIF1L fusions in other ETV6-ABL1-positive ALL. 29726059 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 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 Finally, we reviewed the literature for ETV6 germline aberrations and predispositions to ALL. 29034503 2018
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE The multiplex ligation-dependent probe amplification (MLPA) method was used to detect the copy number alterations (CNAs) of IKAROS family zinc finger 1 (<i>IKZF1</i>), paired box 5 (<i>PAX5</i>), ETS variant 6 (<i>ETV6</i>), RB transcriptional corepressor 1 (<i>RB1</i>), BTG anti-proliferation factor 1 (<i>BTG1</i>), early B-cell factor 1 (<i>EBF1</i>), cyclin dependent kinase inhibitor 2A/2B (<i>CDKN2A/2B</i>) and cytokine receptor like factor 2 (<i>CRLF2</i>) genes in 87 adults with acute lymphoblastic leukemia (ALL) in China. 29552179 2018
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE BCR-ABL1, TCF3-PBX1, KMT2A-AFF1 and ETV6-RUNX1 were more frequent in B-ALL. 30125757 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 The t(12;21) (p13;q22) chromosomal translocation resulting in the <i>ETV6/RUNX1</i> fusion gene is the most frequent structural cytogenetic abnormality in children with acute lymphoblastic leukemia (ALL). 29029492 2017
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker 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 Biomarker disease BEFREE <i>ETV6/RUNX1</i> (+) ALL may be heterogeneous in terms of prognosis, and variables such as MRD at end ofremission induction or additional structural abnormalities of 12p could define a subset of patients who are likely to have poor outcome. 27506214 2017
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation 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 ETV6/RUNX1 (E/R) is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL). 28418909 2017
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 GeneticVariation 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 CLIC5: a novel ETV6 target gene in childhood acute lymphoblastic leukemia. 27540136 2016
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 We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be informative about the fetal cell type in which clonal advantage is elicited by ETV6-RUNX1. 25388957 2015