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BIOMARKER:

RUNX1 mutation

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:
18h
Frequency and impact of somatic co-occurring mutations on post-transplant outcomes in acute myeloid leukemia: a multicenter registry analysis on behalf of the EBMT ALWP. (PubMed, Bone Marrow Transplant)
OS was additionally negatively affected when the ten genes were unmutated. Notably, outcomes were excellent for SAR mutations (2-year LFS 76%, OS 84%), indicating allo-HCT in CR1 can overcome their adverse risk at diagnosis.
Journal
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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) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2)
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TP53 mutation • FLT3-ITD mutation • NPM1 mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation • SRSF2 mutation
4d
Decoding the molecular drivers of TP53-mutant acute myeloid leukaemia: Clinical implications and prognostic insights. (PubMed, Br J Haematol)
Better responses were observed in patients treated with the venetoclax in combination with hypomethylating agent (VEN + HMA) regimen compared to those receiving the '3 + 7' regimens (composite complete remission [CRc], 53.8% vs. 30.2%; p = 0.018)...In conclusion, molecular factors matter in influencing the prognosis of TP53-mutant AML patients. Among them, TP53 mutation sites merit particular attention.
Journal
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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TP53 mutation • FLT3-ITD mutation • RUNX1 mutation • RUNX1-RUNX1T1 fusion
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Venclexta (venetoclax)
11d
Sensitivity to ATR-CHK1 pathway inhibition in AML/MDS is enhanced by SRSF2 mutations and reduced by RUNX1 loss. (PubMed, bioRxiv)
In conclusion, SRSF2 and U2AF1 mutations are biomarkers of sensitivity to ATR-CHK1 pathway inhibitors, while RUNX1 mutations cause resistance. These biomarkers can support patient stratification in MDS/AML.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
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RUNX1 mutation • SRSF2 mutation
13d
Proposed Modifications to Prognostic Classification of AML Patients Treated With Intensive Chemotherapy Based on Recent Real-World Data. (PubMed, Clin Lymphoma Myeloma Leuk)
This revised classification provides a better discrimination of prognostic groups as compared with ELN2022, likely due to the high rate of HSCT now achievable for ELN int risk patients. However, results in ELN adv risk patients remain suboptimal.
Journal • Real-world evidence
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TP53 (Tumor protein P53) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A)
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TP53 mutation • RUNX1 mutation
22d
Molecular abnormalities and clinical features in adult patients with acute myeloid leukemia in Thailand. (PubMed, Diagn Pathol)
The complexity of AML was influenced by various cytogenetic and molecular abnormalities, which contributed to patients' heterogeneous presentation and survival outcomes. In addition to the previous data, IDH1, IDH2, and DNMT3A mutations might have affected survival outcomes in AML patients in our retrospective cohort. However, further studies with larger sample sizes are needed to validate these observations.
Journal
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • RAS (Rat Sarcoma Virus)
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TP53 mutation • FLT3-ITD mutation • IDH1 mutation • FLT3 mutation • NPM1 mutation • RUNX1 mutation • RAS mutation • ASXL1 mutation • TET2 mutation • SF3B1 mutation • FLT3-TKD mutation • SRSF2 mutation
1m
Plasmacytoid Dendritic Cell-Expansion in Acute Myeloid Leukemia (pDC‑AML): a Review of Clinicopathologic Features, Genetics, and Outcomes. (PubMed, Curr Hematol Malig Rep)
Reports on venetoclax-based therapy show mixed outcomes, while CD123-directed therapies are being explored...Early recognition, dual-compartment minimal residual disease assessment, timely transplant consideration, and referral for clinical trials are central to management. Standardized immunophenotypic criteria, integrated genomic profiling, and prospective evaluation of CD123-targeted and rational combination therapies are priorities to improve classification, risk stratification, and patient outcomes.
Review • Journal
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FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD34 (CD34 molecule) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • NRP1 (Neuropilin 1) • CLEC4C (C-Type Lectin Domain Family 4 Member C)
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NRAS mutation • RUNX1 mutation • TET2 mutation
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Venclexta (venetoclax)
1m
Omacetaxine and Venetoclax for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome Harboring Mutant RUNX1 (clinicaltrials.gov)
P1/2, N=24, Terminated, M.D. Anderson Cancer Center | Completed --> Terminated; The study terminated early because the company was longer providing the investigational product.
Trial termination
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RUNX1 (RUNX Family Transcription Factor 1)
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RUNX1 mutation
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Venclexta (venetoclax) • Synribo (omacetaxine mepesuccinate)
1m
Impact of RUNX1 mutations at distinct sites on the prognosis of patients with acute myeloid leukemia (ChiCTR2500111148)
P=N/A, N=100, Not yet recruiting, Southern Medical University Southern Hospital; Southern Medical University Southern Hospital
New trial
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RUNX1 (RUNX Family Transcription Factor 1)
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RUNX1 mutation
1m
Integration of a 4-gene risk score model enhances prognostic accuracy in acute myeloid leukemia. (PubMed, Cell Cycle)
In summary, the four-gene risk score holds promise in predicting the OS of AML patients, and the composite risk classification shows greater potential in predicting the outcomes of AML patients. These four genes may represent potential therapeutic targets in the treatment of AML.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • CD34 (CD34 molecule) • CALCRL (Calcitonin Receptor Like Receptor)
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FLT3-ITD mutation • NPM1 mutation • RUNX1 mutation
1m
High IL1R1 expression predicts poor survival and benefit from stem cell transplant in intermediate-risk acute myeloid leukemia from the Leucegene cohort. (PubMed, Biomark Res)
IL1R1 expression is a candidate marker to identify patients with intermediate-risk cytogenetics acute myeloid leukemia at high risk of relapse who benefit from allogeneic hematopoietic stem cell transplantation in first remission.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • 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) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • IL1R1 (Interleukin 1 receptor, type I)
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FLT3-ITD mutation • RUNX1 mutation • ASXL1 mutation
2ms
Acute Leukemias of Ambiguous Lineage With RUNX1 Mutations Show Similar Prognosis Compared to Acute Myeloid Leukemia With RUNX1 Mutations: A Study From the Bone Marrow Pathology Group. (PubMed, Am J Hematol)
Our results suggest ALAL-RUNX1 is associated with younger age, higher blasts, and more karyotypic abnormalities, but has similar clinical and genetic features and outcomes to AML-RUNX1. Our findings suggest, like other MR mutations, RUNX1-mutated ALALs should be included within AML-MR.
Clinical • Journal
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TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • ZNF384 (Zinc Finger Protein 384)
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TP53 mutation • RUNX1 mutation • KMT2A rearrangement
2ms
Case Report: A rare RUNX1 rearrangement resulting from t(8;21)(p12;q22) in acute myeloid leukemia with plasmacytoid dendritic cell expansion. (PubMed, Front Oncol)
Given the poor prognosis associated with this subtype, CD123-targeted therapy, such as tagraxofusp-erzs, alone or in combination with agents like azacitidine and venetoclax, may represent a rational therapeutic approach. To our knowledge, this represents the third case report of RUNX1 rearrangement in pDC-AML and may provide valuable insights for future research.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • CD123 (Interleukin 3 Receptor Subunit Alpha) • IL3RA (Interleukin 3 Receptor Subunit Alpha)
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RUNX1 mutation
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Venclexta (venetoclax) • azacitidine • Elzonris (tagraxofusp-erzs)