|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Regarding the uncertainty of the exact cause of the acute lymphocytic leukemia (ALL) caused by ETV6-RUNX1t(12;21) translocation, correcting genes of the ETV6 and RUNX1 in ETV6/RUNX1 fusion gene simultaneously on chromosome 12 may be effective in reducing leukemia malignancy.
|
31602594 |
2020 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Discontinuation of L-asparaginase and poor response to prednisolone are associated with poor outcome of ETV6-RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia.
|
30689137 |
2019 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Autophagy inhibition as a potential future targeted therapy for ETV6-RUNX1-driven B-cell precursor acute lymphoblastic leukemia.
|
30381299 |
2019 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The study of METTL3 and METTL14 expressions in childhood ETV6/RUNX1-positive acute lymphoblastic leukemia.
|
31429529 |
2019 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Particularly notable are the pleiotropic effects of the BAK1 variant on multiple haematological malignancies and specific effects of IGF2BP1 on ETV6-RUNX1 ALL evidenced by both germline and somatic genomic analyses.
|
31767839 |
2019 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most frequently occurring genetic abnormality in pediatric B-lymphocyte-lineage acute lymphoblastic leukemia is the t(12;21) chromosomal translocation that results in a ETV6-RUNX1 (also known as TEL-AML1) fusion gene.
|
30986496 |
2019 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Second, in a small fraction of these cases, the postnatal acquisition of secondary genetic changes (primarily V(D)J recombination-activating protein (RAG) and activation-induced cytidine deaminase (AID)-driven copy number alterations in the case of ETS translocation variant 6 (ETV6)-runt-related transcription factor 1 (RUNX1)<sup>+</sup> ALL) drives conversion to overt leukaemia.
|
29784935 |
2018 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Somatic cell mutations and chromosomal abnormalities, including those of RUNX1, are observed in myelodysplastic syndrome, acute myeloid leukemia, acute lymphoblastic leukemia, and chronic myelomonocytic leukemia at a high frequency.
|
29883054 |
2018 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of PTP4A3 in ETV6-RUNX1 acute lymphoblastic leukemia.
|
28063378 |
2017 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The final three sections of the chapter cover the spectrum and clinical significance of RUNX1 point mutations in AML and myelodysplastic syndromes, in familial platelet disorder with associated myeloid malignancy, and in acute lymphoblastic leukemia.
|
28299658 |
2017 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It has, however, been possible to backtrack this process through molecular analysis of appropriate clinical samples: (i) leukaemic clones in monozygotic twins that are either concordant or discordant for ALL; (ii) archived neonatal blood spots or Guthrie cards from individuals who later developed leukaemia; and (iii) stored, viable cord blood cells.Here, we outline our studies on the aetiology and pathology of childhood ALL that provide molecular evidence for a monoclonal, prenatal origin of ETV6-RUNX1+ leukaemia in monozygotic identical twins.
|
28299660 |
2017 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Minimal residual disease monitoring in childhood B lymphoblastic leukemia with t(12;21)(p13;q22); ETV6-RUNX1: concordant results using quantitation of fusion transcript and flow cytometry.
|
28004528 |
2017 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.
|
27265895 |
2016 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Unique long non-coding RNA expression signature in ETV6/RUNX1-driven B-cell precursor acute lymphoblastic leukemia.
|
27650541 |
2016 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic alterations in glucocorticoid signaling pathway components are associated with adverse prognosis in children with relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia.
|
26327566 |
2016 |
|
Acute lymphocytic leukemia
|
0.100 |
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 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Prognostic impact of RUNX1 and ETV6 gene copy number on pediatric B-cell precursor acute lymphoblastic leukemia with or without hyperdiploidy.
|
27393278 |
2016 |