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GENE:

RUNX1 (RUNX Family Transcription Factor 1)

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LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)

P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026

1 day ago

Trial initiation date

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)

TP53 mutation • PTEN deletion

HSCs/MPPs as cells of origin with altered differentiation hierarchy impairing immunomicroenvironment in PML::RARA and CBFα/β fusion AML. (PubMed, Proc Natl Acad Sci U S A)

Through the examination of intercellular communications among various putative fTF+ and normal cell populations, we developed a ligand-receptor (L-R)-based risk-scoring model with independent prognostic value. Collectively, these findings provide insights into the cells of origin of LSCs and the implications of fTF expression for the immune landscape of AML.

1 day ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)

Comparative transcriptomics analysis of histone deacetylases, transcription factors, and ion channel genes in human iPSC-cardiomyocytes vs. the adult human heart. (PubMed, bioRxiv)

In functional measurements, HDAC suppression primarily increased excitability, while SIRT suppression decreased excitability, in line with transcriptomic links. Our analysis offers insights about the role of epigenetic modifiers in regulating cardiac electrophysiology and informs the utility of hiPSC-CM as a scalable experimental model for cardiotoxicity testing of HDAC inhibitors.

1 day ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • TRIM28 (Tripartite Motif Containing 28) • SHMT2 (Serine Hydroxymethyltransferase 2)

Identification of cellular hierarchy in paediatric acute myeloid leukaemia: The Japan Children's Cancer Group trial (JCCG AML-12). (PubMed, Br J Haematol)

LSPC-Cycle, FLT3-ITD and NUP98::KDM5A were considered independent prognostic factors in multivariate analysis. Findings indicate the prognostic relevance of cellular hierarchy and the importance of integrating hierarchy-specific molecular profiles for improved risk stratification and treatment formulation.

5 days ago

Journal

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) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • MECOM (MDS1 And EVI1 Complex Locus) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • NUP214 (Nucleoporin 214) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • GATA1 (GATA Binding Protein 1) • GLIS2 (GLIS Family Zinc Finger 2) • KDM5A (Lysine Demethylase 5A) • MLLT3 (MLLT3 Super Elongation Complex Subunit)

FLT3-ITD mutation

Hematologic malignancies in pediatric patients with RUNX1-Familial Platelet Disorder with Associated Myeloid Malignancy. (PubMed, Blood Adv)

We recommend routine monitoring with quarterly complete blood counts and annual bone marrow biopsies to monitor for changes and transformation to HM. (NCT03854318).

8 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1)

11d

Non-invasive detection of bone marrow fibrosis in myeloproliferative neoplasms using cell-free RNA. (PubMed, iScience)

IL-18 emerged as a critical inflammatory mediator, with elevated plasma levels correlating with the transformation to high-grade fibrosis (reticulin grades 2-3). Functional assays confirmed that the IL-18 stimulation of mesenchymal stromal cells induced fibrotic transformation, emphasizing its role as a biomarker and target.

11 days ago

Journal • JAK2V617F

RUNX1 (RUNX Family Transcription Factor 1) • S100A8 (S100 Calcium Binding Protein A8) • IL18 (Interleukin 18) • TGFB1 (Transforming Growth Factor Beta 1)

11d

Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia with KMT2A Partial Tandem Duplication and Are Associated with FLT3 Internal Tandem Duplication. (PubMed, Cancers (Basel))

AML with KMT2A-PTD shows distinctive immunophenotypic features with increased CD123 and aberrant CD25 expression, both associated with FLT3-ITD. These markers may have diagnostic and therapeutic relevance in this AML subtype.

11 days ago

Journal • IO biomarker

FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • CD38 (CD38 Molecule) • CD123 (Interleukin 3 Receptor Subunit Alpha) • IL2RA (Interleukin 2 receptor, alpha) • CD34 (CD34 molecule) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • ISG20 (Interferon Stimulated Exonuclease Gene 20)

FLT3-ITD mutation • IL2RA expression

11d

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies. (PubMed, Cancers (Basel))

Identification of these germline mutations is critical as MNs with germline predisposition dictate specific therapeutic strategies-particularly for hematopoietic stem cell transplantation (HSCT)-and require genetic counseling and surveillance for at-risk relatives. Accurate diagnosis often requires non-hematopoietic germline DNA testing, which provides important biological insights into the development of different myeloid neoplasms and directs personalized patient care.

11 days ago

Review • Journal

RUNX1 (RUNX Family Transcription Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)

12d

Age-dependent clinical, molecular, and prognostic differences in patients with AML: a retrospective study. (PubMed, Hematology)

This study revealed that patients aged ≥50 years displayed more complex genetic aberration profiles and experienced significantly poorer prognoses compared to their younger counterparts. These findings provided novel insights for optimizing treatment strategies for middle-aged and elderly AML patients in the Chinese population.

12 days ago

Retrospective data • Journal

TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • WT1 (WT1 Transcription Factor) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)

TP53 mutation • KIT mutation • Chr del(5q) • CBFB-MYH11 fusion

Venclexta (venetoclax)

13d

B-cell marker expression in acute myeloid leukemia with plasmacytoid dendritic cell differentiation (pDC-AML) without RUNX1 lesions: An underrecognized diagnostic pitfall. (PubMed, Virchows Arch)

Here, we present two cases of pDC-AML with B-cell marker expression in which RUNX1 aberrations were not identified. Although previously we speculated on the role of RUNX1 in the aberrant expression of B-cell markers such in cases, the absence of RUNX1 lesions in the current cases supports the potential inherent ability of pDCs to express B-cell markers during maturation.

13 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)

RUNX1 mutation

17d

The GF-NEO discovery platform unveils a [KQE][DG] sequence motif within fusion neoantigens in pediatric cancer. (PubMed, iScience)

Finally, a multipronged validation strategy using in vitro and in vivo systems confirms the GF-NEOs presentation through mass spectrometry-based proteomics and immunopeptidomics. Multiple GF-NEOs encoded by two versions of the ETV6-RUNX1 fusion were validated, paving the way for targeted immunotherapy development.

17 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6)

17d

Clinical characteristics and whole exome sequencing in JAK2V617F- and CALR-unmutated essential thrombocythemia. (PubMed, Hematology)

Patients with JAK2V617F- and CALR-unmutated ET tend to present at a younger age and exhibit a lower incidence of thrombosis compared to those with JAK2V617F-mutated ET. The application of WES enabled the detection of uncommon and potential driver mutations in JAK2V617F- and CALR-unmutated ET.

17 days ago

Journal • JAK2V617F • CALR

DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • MSH6 (MutS homolog 6) • SETBP1 (SET Binding Protein 1) • CALR (Calreticulin)

CALR mutation