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BIOMARKER:

RUNX1-RUNX1T1 fusion

i
Other names: RUNX1, RUNX Family Transcription Factor 1, Runt-Related Transcription Factor 1, Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit, SL3/AKV Core-Binding Factor Alpha B Subunit, SL3-3 Enhancer Factor 1 Alpha B Subunit, Runt Related Transcription Factor 1, Acute Myeloid Leukemia 1 Protein, Oncogene AML-1, PEBP2-Alpha B, PEA2-Alpha B, AMLCR1, CBFA2, AML1, Core-Binding Factor Subunit Alpha-2, AML1-EVI-1 Fusion Protein, Acute Myeloid Leukemia 1, Aml1 Oncogene, CBF-Alpha-2, AML1-EVI-1, PEBP2alpha
Entrez ID:
Related biomarkers:
5d
Randomized Phase III Study of Intensive Chemotherapy With or Without Dasatinib (Sprycel™) (clinicaltrials.gov)
P3, N=204, Completed, University of Ulm | Active, not recruiting --> Completed
Trial completion
|
RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
|
dasatinib • daunorubicin • idarubicin hydrochloride
27d
Trial completion
|
RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
3ms
Analysis of Safety and Efficacy of Avapritinib As Targeted Therapy for Pediatric Acute Myeloid Leukemia Patients with KIT Mutation after Transplantation (ASH 2023)
2 patients did not achieve continuous RUNX1: : RUNX1T1 negative after preemptive therapy with Decitabine (DAC) and donor lymph infusion (DLI), and then was treated with Avapritinib, one's RUNX1: : RUNX1T1 fusion achieved continuously negative after 1 month treatment of Avapritinib, the other's achieved continuous negative after 7 months treatment of Avapritinib. Avapritinib is safe and effective in the prophylactic and preemptive treatment of AML with KIT mutation after allo-HSCT in children, which provides a clinical drug for the prevention of relapse after transplantation.
Clinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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KIT mutation • RUNX1 mutation • KIT N822K • KIT exon 17 mutation • RUNX1-RUNX1T1 fusion • KIT fusion
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decitabine • Ayvakit (avapritinib)
4ms
Management of Hyperleukocytosis in Pediatric Acute Myeloid Leukemia Using Immediate Chemotherapy without Leukapheresis, in Protocol NOPHO-DBH AML-2012 (ASH 2023)
Protocol guidelines recommended immediate start of the first chemotherapy course (starting with etoposide [ETO] monotherapy for 5 days at 150 mg/m2 once daily) followed randomized by either cytarabine/mitoxantrone (MEC) or cytarabine/daunoxome or daunorubicin (D[x]EC). The NOPHO-DBH AML 2012 protocol is very effective in pediatric AML. The first chemotherapy course starts with five consecutive days of ETO monotherapy. We made use of this "ETO-window" in the management of HL patients, omitting invasive methods to reduce high WBCs.
Clinical
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • MLLT3 (MLLT3 Super Elongation Complex Subunit)
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FLT3-ITD mutation • NPM1 mutation • KMT2A rearrangement • MLL rearrangement • RUNX1-RUNX1T1 fusion • MLL3 mutation
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cytarabine • etoposide IV • daunorubicin • mitoxantrone
4ms
Residual Mast Cells Can Explain Persistent Molecular Positivity in Difference from Normal Flow Cytometric-Defined MRD Negative Core Binding Factor AML (ASH 2023)
In 11/13 patients, the mast cell fraction was positive for the CBF fusion but all other sorted cell fractions tested were negative. In the remaining two specimens, all cell fractions were negative, likely due to FISH sensitivity compared to RT-PCR. Both CBF fusions exhibited the same pattern, with fusions detected only in the mast cell fractions (7 RUNX1::RUNX1T1 and 4 CBFB::MYH11).
Minimal residual disease
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • IL2RA (Interleukin 2 receptor, alpha) • CD34 (CD34 molecule) • CD2 (CD2 Molecule) • ISG20 (Interferon Stimulated Exonuclease Gene 20)
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RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
4ms
CSF3R T618I Collaborates With RUNX1-RUNX1T1 to Expand Hematopoietic Progenitors and Sensitizes to GLI Inhibition. (PubMed, Hemasphere)
Both primary hematopoietic cells and the t(8;21) positive AML cell line SKNO-1 showed increased sensitivity to the GLI inhibitor GANT61 when expressing CSF3R T618I. Our findings suggest that during leukemogenesis, the RUNX1-RUNXT1 fusion and CSF3R mutation act in a synergistic manner to alter hedgehog signaling, which can be exploited therapeutically.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CSF3R (Colony Stimulating Factor 3 Receptor) • CD34 (CD34 molecule) • GLI2 (GLI Family Zinc Finger 2)
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RUNX1-RUNX1T1 fusion • CSF3R T618I • CSF3R mutation
6ms
Dual intron-targeted CRISPR-Cas9-mediated disruption of the AML RUNX1-RUNX1T1 fusion gene effectively inhibits proliferation and decreases tumor volume in vitro and in vivo. (PubMed, Leukemia)
Demonstrating the feasibility of RUNX1-RUNX1T1 disruption, these findings were substantiated in isolated primary cells from a patient diagnosed with AML t(8;21). In conclusion, we demonstrate proof-of-principle of a dual intron-targeting CRISPR-Cas9 treatment strategy in AML t(8;21) without need for precise knowledge of the breakpoint location.
Preclinical • Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion
12ms
Clinical significance of EVI-1 gene expression and aberrations in patient with de-novo acute myeloid and acute lymphoid leukemia. (PubMed, Leuk Res)
EVI-1 expression could be a helpful diagnostic, prognostic, and predictive biomarker for acute leukemia especially in AML.
Journal
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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RUNX1-RUNX1T1 fusion
1year
Fusion Gene-Based Classification of Variant Cytogenetic Rearrangements in Acute Myeloid Leukemia. (PubMed, Genes (Basel))
Each resulted in RUNX1::RUNX1T1 fusion. Our findings demonstrate the importance of recognizing variant forms of t(8;21) translocations and emphasize the value of applying RUNX1::RUNX1T1 FISH for the detection of cryptic and complex rearrangements when abnormalities involving chromosome band 8q22 are observed in patients with AML.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion
1year
Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia. (PubMed, Pediatr Neonatol)
Our study is the first to report the clinical impact of c-KIT and CEBPA mutations in pediatric patients with non-M3 CBF-AML from the multi-ethnic Yunnan Province, China. c-KIT and CEBPA mutations occurred at a higher frequency in CBF-AML cases and were associated with unique clinical characteristics; however, no potential molecular prognostic markers were identified.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
|
KIT mutation • CEBPA mutation • RUNX1-RUNX1T1 fusion
over1year
Journal
|
RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion
over1year
Retrospective Lineage Tracing of Pediatric Acute Myeloid Leukemia Using Single-Cell Whole Genome Sequencing (ASH 2022)
These data suggest that genetic driving aberrations may not be the only underlying mechanism of AML development in children. Noncoding drivers, epigenetic changes or environmental influences may play an important role in the final steps towards leukemogenesis.
Retrospective data • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
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MLL rearrangement • RUNX1-RUNX1T1 fusion • CLOCK mutation
over1year
Combination Chemotherapy and Dasatinib in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
P2, N=61, Completed, National Cancer Institute (NCI) | Active, not recruiting --> Completed
Trial completion
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
|
dasatinib • daunorubicin • Starasid (cytarabine ocfosfate)
almost2years
NOVEL, FIRST-IN-CLASS, SOMATIC IDH2 DELETION-INSERTION VARIANT C.516_518DELINSTGC CONFERS BORDERLINE PHENOTYPE AND DOES NOT SHOW SUSCEPTIBILITY TO ENASIDENIB IN-VITRO (EHA 2022)
Conclusion Here, we report a novel, somatic delins variant in IDH2 , which, albeit affecting the known Arg172 hotspot, does not show susceptibility to the IDH2i enasidenib in-vitro . Our report argues for functional characterisation of novel variants to ensure a valid biomarker-driven therapy in AML patients.
Preclinical
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • ITGAM (Integrin, alpha M)
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TP53 mutation • IDH2 mutation • NPM1 mutation • RUNX1 mutation • ASXL1 mutation • RUNX1-RUNX1T1 fusion • IDH wild-type
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Vyxeos (cytarabine/daunorubicin liposomal formulation) • Idhifa (enasidenib)
almost2years
A favorable clinical course of acute myeloid leukemia with t (6;21;8)(p23;q22;q22) (PubMed, Rinsho Ketsueki)
This is the first report on a variant of t (8;21) involving the breakpoint 6p23. After induction chemotherapy, our patient achieved complete remission and has been stable for four years.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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RUNX1-RUNX1T1 fusion
2years
INFLUENCE OF C-KIT MUTATIONS ON PROGNOSIS FOLLOWING ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PEDIATRIC PATIENTS WITH CORE BINDING FACTOR AML WITH RUNX1-RUNX1T1 FUSION GENE (EBMT 2022)
The other two patients underwent total body irradiation (TBI) and received cyclophosphamide (CTX) and antilymphocyte globulin (ATG) regimens. Cyclosporine or tacrolimus, mycophenolate mofeil and short-course methorexate were the most frequently administrated graft versus-host disease (GVHD) prophylaxis regimens... Allo-HSCT is an effective therapy among high-risk CBF-AML pediatric patients positive for the RUNX1-RUNX1T1 fusion gene. However, we found that an additional D816 c-KIT mutation is strongly associated with a poor prognosis among these pediatric AML patients.
Clinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
KIT mutation • KIT positive • RUNX1-RUNX1T1 fusion
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cyclophosphamide
2years
Genome-wide DNA Methylation Analysis in Pediatric Acute Myeloid Leukemia. (PubMed, Blood Adv)
The assay for transposase-accessible chromatin sequencing of AMLs supported enhanced chromatin accessibilities around genomic regions, such as HOXB cluster genes, SCHIP1, and PRDM16, which were associated with DNA methylation changes in AMLs with FLT3-ITD and high PRDM16 expression. Our results suggest that DNA methylation levels at specific CpG sites are useful to support genetic alterations and gene expression patterns of patients with pediatric AML.
Clinical • Journal • Epigenetic controller
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FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • MECOM (MDS1 And EVI1 Complex Locus) • STAT5A (Signal Transducer And Activator Of Transcription 5A)
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KMT2A rearrangement • MLL rearrangement • CEBPA mutation • RUNX1-RUNX1T1 fusion • KMT2A-PTD
2years
Epigenetic silencing of UBXN8 contributes to leukemogenesis in t(8;21) acute myeloid leukemia. (PubMed, Exp Mol Med)
Decitabine, a specific inhibitor of DNA methylation, upregulated the expression of UBXN8 in RUNX1-RUNX1T1 AML cell lines...Enhancing UBXN8 levels can significantly inhibit tumor proliferation and promote the differentiation of RUNX1-RUNX1T1 cells in vivo. In conclusion, our results indicated that epigenetic silencing of UBXN8 via methylation of its promoter region mediated by the RUNX1-RUNX1T1 fusion protein contributes to the leukemogenesis of t(8;21) AML and that UBXN8 targeting may be a potential therapeutic strategy for t(8;21) AML.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion
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decitabine
over2years
Genomic Analysis Focusing on RUNX1-RUNX1T1 in Japanese Patients with AML: HM-Screen-Japan 01 (ASH 2021)
AML with RUNX1-RUNX1T1 fusion gene is currently not indicated for transplantation in the first remission. Previous studies have demonstrated that approximately 30% of patients with CBF-AML harbored the KIT mutations at diagnosis, which might be an indicator of poor prognosis. In our study, the KIT mutations were detected much more frequently than in previously studies of newly-diagnosed CBF-AML.
Clinical
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FLT3 (Fms-related tyrosine kinase 3) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
FLT3 mutation • FLT3 D835Y • FLT3 D835 • KIT N822K • JAK2 V617F • KIT D816V • RUNX1-RUNX1T1 fusion • JAK2 mutation
|
FoundationOne® Heme CDx
over2years
New trial
|
RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
over2years
Measurable Residual Disease Detected by Multiparameter Flow Cytometry and Sequencing Improves Prediction of Relapse and Survival in Acute Myeloid Leukemia. (PubMed, Front Oncol)
Conversely, for patients with biallelic CEBPA or DNMT3A mutations, only the MFC method was recommended due to the poor prognostic discriminability in tracking mutant transcripts. In conclusion, this study demonstrated that the MFC MRD after two consolidation cycles independently predicted clinical outcomes, and the integration of MFC and molecular MRD should depend on different types of AML-related genetic lesions.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
|
NRAS mutation • FLT3 mutation • NPM1 mutation • KIT mutation • DNMT3A mutation • CEBPA mutation • RUNX1-RUNX1T1 fusion
almost3years
Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21. (PubMed, Mol Cytogenet)
The present case highlights importance of complex rearrangements rarely encountered in AML, suggesting that all involved regions harbor critical candidate genes regulating the pathogenesis of AML, leading to novel as well as well-known leukemia associated chromosomal aberrations.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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FLT3-ITD mutation • RUNX1-RUNX1T1 fusion • Chr t(8;21)(q22;q22)
almost3years
[VIRTUAL] TARGETING THE RUNX1-RUNX1T1 FUSION GENE USING CRISPR-CAS9 TECHNOLOGY EFFECTIVELY INHIBITS PROLIFERATION AND DECREASES TUMOR VOLUME IN VITRO AND IN VIVO (EHA 2021)
Patients older than 65 years represent a particular challenge as many are not candidates for treatment with cytarabine and daunorubicin. Conclusion In this proof of principle study, we demonstrate a novel CRISPR-based technology that effectively inhibits proliferation and decreases tumor volume in vitro and in vivo. Our results suggest that targeting the RUNX1-RUNX1T1 fusion gene can potentially be a future treatment strategy for patients with AML8;21.
Preclinical
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion
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cytarabine • daunorubicin
almost3years
An unusual case of chronic lymphocytic leukemia with trisomy 12 presenting with prolymphocytic transformation and t(8;21)(q22;q22). (PubMed, Clin Case Rep)
First report of t(8;21)(q22;q22) in a patient with CLL. RUNX1-RUNX1T1 fusion gene resulting from the translocation may have played a role in the prolymphocytic transformation.
Clinical • Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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RUNX1-RUNX1T1 fusion • TS 12
almost3years
Characteristics of Cohesin Mutation in Acute Myeloid Leukemia and Its Clinical Significance. (PubMed, Front Oncol)
By summarizing the major findings regarding the cohesin mutation in AML, this review aims to define the characteristics of the cohesin complex mutation, identify its relationships with co-occurring gene mutations, assess its roles in clonal evolution, and discuss its potential for the prognosis of AML. In particular, we focus on the function of cohesin mutations in RUNX1-RUNX1T1 fusion.
Clinical • Review • Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
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RUNX1 mutation • RUNX1-RUNX1T1 fusion
almost3years
Randomized Phase III Study of Intensive Chemotherapy With or Without Dasatinib (Sprycel™) (clinicaltrials.gov)
P3, N=203, Active, not recruiting, University of Ulm | Recruiting --> Active, not recruiting | Trial primary completion date: Feb 2021 --> Feb 2024
Clinical • Enrollment closed • Trial primary completion date
|
RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
|
dasatinib • daunorubicin • idarubicin hydrochloride
almost3years
Enhanced cytarabine-induced killing in OGG1-deficient acute myeloid leukemia cells. (PubMed, Proc Natl Acad Sci U S A)
The mechanism for this preferential toxicity was addressed using in vitro replication assays in which DNA polymerase δ was shown to insert Ara-C opposite 8-oxo-dG, resulting in termination of DNA synthesis. Overall, these data suggest that incorporation of Ara-C opposite unrepaired 8-oxo-dG may be the fundamental mechanism conferring selective toxicity and therapeutic effectiveness in OGG1-deficient AML cells.
Journal • PARP Biomarker
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • OGG1 (8-Oxoguanine DNA glycosylase)
|
RUNX1-RUNX1T1 fusion
|
cytarabine
3years
ZBTB7A prevents RUNX1-RUNX1T1-dependent clonal expansion of human hematopoietic stem and progenitor cells. (PubMed, Oncogene)
Finally, ZBTB7A expression in t(8;21) cells lead to a cell cycle arrest that could be mimicked by inhibition of glycolysis. Our findings suggest that loss of ZBTB7A may facilitate the onset of AML t(8;21), and that RUNX1-RUNX1T1-rearranged leukemia might be treated with glycolytic inhibitors.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CD34 (CD34 molecule)
|
RUNX1-RUNX1T1 fusion
over3years
[VIRTUAL] Prediction of Clinical Response for Frontline Treatment of Acute Myeloid Leukemia (AML) Patients Using the Cellworks Omics Biology Model (CBM): Mycare-021-02 (ASH 2020)
Even in biological subgroups of AML expected to have sensitive disease, induction failure is not rare. Fortunately, the CBM could identify causes of failure and suggest alternative therapies based on co-occurring genomic abnormalities to mitigate the ineffectiveness of standard induction regimens in patients with resistant disease despite their favorable biology. The identification of patient-specific resistance mechanisms characterizes a new therapeutic imperative founded on deep molecular diagnosis that promises to enhance disease outcomes, inform treatment planning, avoid adverse events from ineffective therapies, and reduce costs.
Clinical
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DNMT3A (DNA methyltransferase 1) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • HOXA9 (Homeobox A9)
|
DNMT3A mutation • EZH2 mutation • RUNX1-RUNX1T1 fusion • CBFB-MYH11 fusion
over3years
[VIRTUAL] High EVI1 Expression Predict Adverse Outcome in Children with Acute Myeloid Leukemia: A Multicenter, Nonrandomized Clinical Study in China (ASH 2020)
One course of Homoharringtonine (substitution of Amsacrine in MRC-AML 15 protocol)/ Cytarabine/ Etoposide and one course of Mitoxantrone/ Cytarabine in consolidation chemotherapy were uniform in both groups. EVI1 screening at diagnosis should be included in risk stratification of pediatric AML. Whether pediatric patients with EVI1+ AML can benefit from HSCT in first CR needs further reasearch.
Clinical • Adverse events
|
FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
|
FLT3-ITD mutation • NPM1 mutation • KIT mutation • CEBPA mutation • RUNX1-RUNX1T1 fusion
|
cytarabine • etoposide IV • mitoxantrone • Synribo (omacetaxine mepesuccinate)
over3years
[VIRTUAL] A patient with CALR-mutated acute myeloid leukemia with RUNX1-RUNX1T1 and CALR loss of heterozygosity in an extramedullary lesion (DGHO 2020)
Here we present an unusual case of a core-binding factor leukemia with a CALR mutation. The mutation frequencies point towards a clonal evolution with an initial CALR mutated MPN clone, which acquired further mutations (RUNX1-RUNX1T1 and subsequently DNMT3A and EZH2), leading to secondary AML. Furthermore, CALR LOH may have contributed to the development of extramedullary disease.
Clinical
|
DNMT3A (DNA methyltransferase 1) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • RUNX1 (RUNX Family Transcription Factor 1)
|
DNMT3A mutation • EZH2 mutation • RUNX1-RUNX1T1 fusion • EZH2 positive
over3years
[VIRTUAL] A patient with CALR-mutated acute myeloid leukemia with RUNX1-RUNX1T1 and CALR loss of heterozygosity in an extramedullary lesion (DGHO 2020)
Here we present an unusual case of a core-binding factor leukemia with a CALR mutation. The mutation frequencies point towards a clonal evolution with an initial CALR mutated MPN clone, which acquired further mutations (RUNX1-RUNX1T1 and subsequently DNMT3A and EZH2), leading to secondary AML. Furthermore, CALR LOH may have contributed to the development of extramedullary disease.
Clinical
|
DNMT3A (DNA methyltransferase 1) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • RUNX1 (RUNX Family Transcription Factor 1)
|
DNMT3A mutation • EZH2 mutation • RUNX1-RUNX1T1 fusion • EZH2 positive
over3years
[VIRTUAL] A patient with CALR-mutated acute myeloid leukemia with RUNX1-RUNX1T1 and CALR loss of heterozygosity in an extramedullary lesion (DGHO 2020)
Here we present an unusual case of a core-binding factor leukemia with a CALR mutation. The mutation frequencies point towards a clonal evolution with an initial CALR mutated MPN clone, which acquired further mutations (RUNX1-RUNX1T1 and subsequently DNMT3A and EZH2), leading to secondary AML. Furthermore, CALR LOH may have contributed to the development of extramedullary disease.
Clinical
|
DNMT3A (DNA methyltransferase 1) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • RUNX1 (RUNX Family Transcription Factor 1)
|
DNMT3A mutation • EZH2 mutation • RUNX1-RUNX1T1 fusion • EZH2 positive