News - RUNX1 mutation

Impact of RUNX1 mutations at distinct sites on the clinical characteristics and prognosis of patients with acute myeloid leukemia. (PubMed, BMC Cancer)

Collectively, these findings indicate that the specific locus of RUNX1 mutation modulates chemotherapy efficacy and outcome, providing critical insights for precision therapy in RUNX1mutant AML.

6 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1)

RUNX1 mutation

12d

A gene signature derived from leukemia associated macrophages provides a compelling risk stratification for human AML patients. (PubMed, Biomark Res)

This scoring system was then applied to the transcriptomic data from a cohort of 838 newly diagnosed patients treated on Alliance/CALGB protocols, who were similarly treated with intensive cytarabine/daunorubicin-based chemotherapy on the CALGB/Alliance for the Clinical Trials in Oncology protocol. We also noted a strong association of FLT3-ITD, RUNX1 and TP53 mutations with high LAM scores. Applying the LAM score to the current European Leukemia Network risk group criteria, independent prognostic implications and a refined prognostic significance of each subgroup were provided, indicating the value of including immune microenvironment data into AML risk stratification.

12 days ago

Journal • Gene Signature

TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • FGFR1 (Fibroblast growth factor receptor 1) • RUNX1 (RUNX Family Transcription Factor 1)

TP53 mutation • FLT3-ITD mutation • RUNX1 mutation

cytarabine • daunorubicin

19d

Genetic Profile, Treatment Response, and Outcomes of BCR::ABL1-Positive Mixed-Phenotype Acute Leukemia: A Study from the BCR::ABL1 Pathology Group. (PubMed, Mod Pathol)

No significant differences in genetic profiles, treatment response, or outcomes were observed between patients with and without CML-like features. This study provides a comprehensive genomic and clinical characterization of BCR::ABL1-positive MPAL, supporting improved risk stratification and future therapeutic strategies.

19 days ago

Clinical • Journal • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • ETV6 (ETS Variant Transcription Factor 6) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • IKZF1 (IKAROS Family Zinc Finger 1) • BCORL1 (BCL6 Corepressor Like 1)

TP53 mutation • KRAS mutation • NRAS mutation • RUNX1 mutation • TET2 mutation • ABL1 fusion

19d

A fault tree analysis of early treatment failure in Acute myeloid leukemia. (PubMed, Curr Res Transl Med)

Overall, these findings suggest that poor outcomes in AML often occur when aggressive leukemia and patient frailty are present at the same time. Fault tree analysis may help refine risk assessment within existing classification systems.

19 days ago

Journal

TP53 (Tumor protein P53) • RUNX1 (RUNX Family Transcription Factor 1)

TP53 mutation • RUNX1 mutation

21d

Venetoclax Added to Fludarabine + Busulfan Prior to Transplant and to Maintenance Therapy for AML, MDS, and MDS/MPN (clinicaltrials.gov)

P1, N=102, Active, not recruiting, Jacqueline Garcia, MD | Trial completion date: Mar 2027 --> Mar 2030

21 days ago

Trial completion date

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCR (BCR Activator Of RhoGEF And GTPase) • BCL2 (B-cell CLL/lymphoma 2) • NPM1 (Nucleophosmin 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • DEK (DEK Proto-Oncogene) • RIT1 (Ras Like Without CAAX 1) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

TP53 mutation • KRAS mutation • NRAS mutation • RUNX1 mutation • RAS mutation • ASXL1 mutation • CBL mutation • Chr del(5q)

Venclexta (venetoclax) • azacitidine • Inqovi (decitabine/cedazuridine) • fludarabine IV • busulfan

24d

Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms. (PubMed, Int J Lab Hematol)

In our cohort, we observed missense variants clustering in the RHD and recurrence of common pathogenic variants. Higher-risk comutations were found in a substantial fraction of mRUNX1 cases which may contribute to its adverse risk associations. Comparable degrees of aberrancy in B-lineage markers were seen in mRUNX1 patients versus the comparator cohorts of MPAL-wtRUNX1 and AML with rearranged RUNX1.

24 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CD79A (CD79a Molecule) • MME (Membrane Metalloendopeptidase)

RUNX1 mutation

Long-term (74-month) efficacy and safety of ivosidenib and azacitidine in an elderly patient with mutated IDH1 acute myeloid leukemia: insights from a case report. (PubMed, Postgrad Med)

The exceptional 74-month long response of this patient demonstrates that a long-term response is possible for a patient unfit for IC with mIDH1 AML treated with ivosidenib and azacitidine. Further insights into the impact of the mutational status of patients and/or the clonal hierarchy are warranted.

1 month ago

Journal

IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)

IDH1 mutation • RUNX1 mutation

azacitidine • Tibsovo (ivosidenib)

The role of RAS mutations in leukemia progression, differentiation, and drug resistance. (PubMed, Leuk Res Rep)

Ultimately, RAS mutations drive monocytic differentiation of LSCs and venetoclax (VEN) resistance through BCL-2 family rewiring. Beyond AML, they are hallmark genetic lesions in juvenile myelomonocytic leukemia (JMML) and present in 15%-20% of pediatric acute lymphoblastic leukemia (ALL) cases. Here, we propose a comprehensive pathogenic model and targeted therapeutic framework focusing on RAS, MCL-1, BCL2L1 to overcome drug resistance and improve patient outcomes.

1 month ago

Review • Journal • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • BCL2L1 (BCL2-like 1) • RAS (Rat Sarcoma Virus) • CEBPA (CCAAT Enhancer Binding Protein Alpha)

KRAS mutation • NRAS mutation • FLT3-ITD mutation • KIT mutation • RUNX1 mutation • RAS mutation • MLL rearrangement • MLL mutation

Venclexta (venetoclax)

Clinical Characteristics, Gene Mutation Profiles and Prognosis of Patients With Acute Myeloid Leukemia Carrying PHF6 Mutations. (PubMed, Cancer Med)

This study provides clinical evidence for prognosis assessment in PHF6-mutated AML, enabling more precise risk stratification, individualized treatment, and further pathogenesis research.

1 month ago

Retrospective data • Journal

IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • RUNX1 (RUNX Family Transcription Factor 1) • PHF6 (PHD Finger Protein 6)

IDH2 mutation • RUNX1 mutation

2ms

Impact of Genetic Mutations on Response and Time to Progression After Radioembolization of Breast Cancer Liver Metastases. (PubMed, J Vasc Interv Radiol)

Specific genetic mutations are associated with survival, response rate, and time to progression after Y-90 radioembolization. This study underscores the potential use of genetic profiling to individualize treatment plans.

2 months ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • RUNX1 (RUNX Family Transcription Factor 1) • KDM5C (Lysine Demethylase 5C) • RAD21 (RAD21 Cohesin Complex Component) • H3C1 (H3 Clustered Histone 1)

HER-2 mutation • RUNX1 mutation

MSK-IMPACT

2ms

Coronary vasospasm in a patient with RUNX1 mutation in eosinophilic leukemia and hypereosinophilic syndrome: A case report. (PubMed, J Cardiol Cases)

Hypereosinophilic syndrome should be considered in patients with unexplained eosinophilia and systemic symptoms.Eosinophilic myocarditis may mimic acute coronary syndromes and can coexist with coronary vasospasm.Early corticosteroid therapy can prevent irreversible organ damage. Comprehensive evaluation is necessary to exclude secondary causes of eosinophilia.Detection of somatic mutations such as RUNX1 may indicate an underlying clonal eosinophilic disorder and warrants hematology input and long-term monitoring.Multidisciplinary care, including cardiology and hematology input, is vital for optimal management.

2 months ago

Journal

RUNX1 (RUNX Family Transcription Factor 1)

RUNX1 mutation

2ms

RUNX1-deficiency drives immune-active ER + mammary tumorigenesis through activation of interferon signaling. (PubMed, bioRxiv)

Consistent with these findings, human ER + breast cancers with low RUNX1 expression displayed elevated immune signatures and poorer patient survival. Together, our results identify RUNX1-loss as a driver of an immune-active subtype of ER + breast cancer.

2 months ago

Journal

ER (Estrogen receptor) • RB1 (RB Transcriptional Corepressor 1) • RUNX1 (RUNX Family Transcription Factor 1) • STAT1 (Signal Transducer And Activator Of Transcription 1)

ER positive • RUNX1 mutation