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GENE:

RUNX1 (RUNX Family Transcription Factor 1)

News alerts, weekly reports and conference planners

ADVANCES IN MYELOID NEOPLASMS WITH GERMLINE PREDISPOSITION: IMPACT ON DONOR RELATED ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANT (HSCT). (EHA 2024)

Identifying germline predisposition to myeloid neoplasms is crucial for effective disease management beforeHSCT. Germline was suspected in 21% HSTC which is not minor and can affect transplant timing. Correctconfirmation is essential to guide donor testing and selection.

3 days ago

TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2)

TP53 mutation

SOPHiA DDM™ Myeloid Solution

HIGH FLT3 GENE EXPRESSION OFFERS NOVEL THERAPEUTIC OPPORTUNITIES IN PEDIATRIC IAMP21 POSITIVE ACUTE LYMPHOBLASTIC LEUKEMIA (EHA 2024)

Our systematic alternative splicing analysis uncovered several subtype-specific splicing events and identifiednovel splice variants associated with pediatric ALL. A novel exon skipping alternative splicing event of the FLT3gene enabled us to provide the first validated evidence of FLT3 overexpression in iAMP21-positive B-ALL. Thisfinding may provide a rationale for using FLT3 overexpression as a novel biomarker and for applying FLT3inhibitors or FLT3 specific CAR T-cells in the clinical management of respective patients with high-risk iAMP21-positive B-ALL.

3 days ago

Clinical

FLT3 (Fms-related tyrosine kinase 3) • EML4 (EMAP Like 4) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CD79B (CD79b Molecule) • RAC1 (Rac Family Small GTPase 1) • CD58 (CD58 Molecule) • NCOA3 (Nuclear Receptor Coactivator 3)

MLL rearrangement • FLT3 overexpression • FLT3 expression

TruSight RNA Pan-Cancer Panel

MOLECULAR PROFILING OF ALL IN PEDIATRIC PATIENTS TREATED AT SOLCA, GUAYAQUIL. EVALUATION OF PROGNOSTIC VALUE. PRELIMINARY REPORT. (EHA 2024)

This is a preliminary report of the results of NGS analysis of a group of pediatric patients that will allow riskstratification and will provide recommendations of diverse therapeutical approaches within the concept ofpersonalized medicine. The 198 genes panel is ample and identified mutations present in a cluster of 8 genes in the entire set of cases(46/46). We will correlate the obtained mutational profile with response to treatment and relapse considering eternalfactors as nutritional status and access to medical services and medication.

3 days ago

Clinical

FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • NOTCH1 (Notch 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • WT1 (WT1 Transcription Factor) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1) • CSF1R (Colony stimulating factor 1 receptor) • FOXP1 (Forkhead Box P1) • CALR (Calreticulin) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • LZTS1 (Leucine Zipper Tumor Suppressor 1) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) • PDGFC (Platelet Derived Growth Factor C)

CRLF2 rearrangement • BCL11B mutation

FusionPlex™ Pan-Heme panel

CLONAL EVOLUTION IN SECUNDARY ACUTE MYELOID LEUKEMIA ARISING FROM MYELOPROLIFERATIVE NEOPLASMS (EHA 2024)

Our data suggest that secondary AML arising from MPNs is a genetically distinct entity compared to de novoAML, with a higher incidence of mutations in high-risk genes such as TP53, a high rate of relapse/refractorinessand poor prognosis with current therapeutic strategies. NGS determination of somatic mutations could identifyhigh-risk-progression patients, and monitoring these mutations could be useful, along with other clinical data,to anticipate progression.

3 days ago

TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin)

TP53 mutation • RUNX1 mutation • SRSF2 mutation • U2AF1 mutation • JAK2 V617F • CALR mutation

Oncomine Myeloid Research Assay

STUDY OF THE MOLECULAR GENETIC PROFILE OF HIGH-RISK AML PATIENTS USING NEXT GENERATION SEQUENCING (EHA 2024)

Highly heterogeneous molecular genetic profile is present in patients from adverse risk group. Mutations ingenes that activate intracellular signaling pathways are most common in high-risk AML. The presence of morethan 6 mutations and ASXL1mut+ and SRSF2mut+ status negatively affect the survival of patients.

3 days ago

Clinical • Next-generation sequencing

TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • KMT2C (Lysine Methyltransferase 2C) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • FAT1 (FAT atypical cadherin 1) • CUX1 (cut like homeobox 1)

TP53 mutation • DNMT3A mutation • ASXL1 mutation • PTPN11 mutation • SRSF2 mutation

TruSight Myeloid Sequencing Panel

The RTK-RAS signaling pathway is enriched in patients with rare acute myeloid leukemia harboring t(16;21)(p11;q22)/FUS::ERG. (PubMed, Blood Sci)

Transcriptome analysis revealed enrichment of the phosphatidylinositol-3-kinase-Akt (PI3K-Akt), mitogen-activated protein kinase (MAPK), and RAS signaling pathways and upregulation of BCL2, the target of venetoclax, in FUS::ERG AML compared to RUNX1::RUNX1T1 AML, a more common AML subtype with good prognosis...Allogeneic hematopoietic stem cell transplantation failed to improve outcomes. Overall, the high incidence of RTK-RAS pathway mutations and high expression of BCL2 may indicate promising therapeutic targets in this high-risk AML subset.

4 days ago

Journal • IO biomarker

NRAS (Neuroblastoma RAS viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • RUNX1 (RUNX Family Transcription Factor 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • NCAM1 (Neural cell adhesion molecule 1) • FUS (FUS RNA Binding Protein)

KRAS mutation • RAS mutation • BCL2 overexpression • BCL2 expression • NCAM1 positive

Venclexta (venetoclax)

A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome. (PubMed, Leuk Lymphoma)

We present a pediatric patient with RUNX1-FPDMM that evolved into concurrent MDS and T-cell acute lymphoblastic leukemia after a decade of monitoring with serial blood counts. We aim to highlight the treatment challenges and clinical decision-making that may be anticipated in this unique disorder, as well as the potentially curative role for allogenic hematopoietic stem cell transplant in the first complete remission.

7 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1)

Exploring the prognostic value of circular RNAs in pancreatic ductal adenocarcinoma using genome-wide expression profiling. (PubMed, Pancreatology)

We identified several new circRNAs with biomarker potential in surgically treated PDAC, three of which showed an independent prognostic value. We also found that ciRS-7 is absent in cancer cells but abundant in tumor microenvironment and may hold potential as marker of activated stroma.

9 days ago

Journal • Circular RNA

RUNX1 (RUNX Family Transcription Factor 1)

Integration of measurable residual disease by WT1 gene expression and flow cytometry identifies pediatric patients with high risk of relapse in acute myeloid leukemia. (PubMed, Front Oncol)

WT1MRD response post-intensification I serves as an independent prognostic factor for survival in pediatric AML. Integration of WT1 and MFC-based MRD results enhances the reliability of MRD-based prognostic stratification, particularly in patients lacking specific leukemic markers, thereby influencing treatment strategies.

9 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • WT1 (WT1 Transcription Factor) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)

WT1 overexpression

10d

Evaluation of next-generation sequencing for measurable residual disease monitoring in three major fusion transcript subtypes of B-precursor acute lymphoblastic leukaemia. (PubMed, Pathology)

Among the four non-transplanted patients with BCR::ABL1-MRD (+)/NGS-MRD (-), three did not relapse after long-term follow-up. Our finding indicates that NGS-MRD has a better prognostic impact than RT-qPCR-MRD in ETV6::RUNX1 and BCR::ABL1 ALL, whereas in TCF3::PBX1 ALL, both methods exhibit comparable efficacy.

10 days ago

Journal • Next-generation sequencing

ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1)

12d

Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias. (PubMed, Indian J Hematol Blood Transfus)

It can be considered an efficient alternative to conventional karyotyping for identifying specific SCA of interest in under-resourced laboratories. The online version contains supplementary material available at 10.1007/s12288-023-01699-2.

12 days ago

Journal

ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1)

KMT2A rearrangement • MLL rearrangement

12d

Exploring the crosstalk of immune cells: The impact of dysregulated RUNX family genes in kidney renal clear cell carcinoma. (PubMed, Heliyon)

RUNX family genes were abnormally expressed in KIRC patients, and were closely related to the crosstalk of immune cells. Our findings may help to understand the pathogenesis and immunologic roles of the RUNX family in KIRC patients from new perspectives.

12 days ago

Journal • Immune cell

RUNX1 (RUNX Family Transcription Factor 1) • RUNX3 (RUNX Family Transcription Factor 3) • RUNX2 (RUNX Family Transcription Factor 2)

RUNX1 overexpression

13d

Decreasing circ_0014614 promotes the differentiation of bone marrow flineage cells into megakaryocytes in essential thrombocythemia via activiation of miR-138-5p/caspase3 axis. (PubMed, Blood Cells Mol Dis)

Circ_0014614 was down-regulated in ET bone marrow and bone marrow lineage cells, and upregulating circ_0014614 can inhibit bone marrow lineage cells' proliferation and differentiation into megakaryocytes. Mechanistically, circ_0014614 functioned as ceRNA via sponging miR-138-5p and alleviated the inhibitory effect of miR-138-5p on its target caspase3, which potentially deters tumor activity in ET.

13 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • CASP3 (Caspase 3) • GATA1 (GATA Binding Protein 1) • ITGA2B (Integrin Subunit Alpha 2b) • MIR138 (MicroRNA 138)

14d

Modeling and therapeutic targeting of t(8;21) AML with/without TP53 deficiency. (PubMed, Int J Hematol)

However, Trp53-deficient t(8;21) AML cells were still sensitive to several drugs such as dexamethasone. Cas9+ RUNX1-ETO9a cells with/without Trp53 deficiency can produce AML in vivo, can be cultured in vitro for several weeks, and allow efficient gene depletion using the CRISPR/Cas9 system, providing useful tools to advance our understanding of t(8;21) AML.

14 days ago

Journal

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

TP53 mutation

21d

Flow cytometric minimal residual disease measurement accounting for cytogenetics in children with non-high-risk acute lymphoblastic leukemia treated according to the ALL-MB 2008 protocol. (PubMed, Cancer Med)

Our data show that combining clinical risk factors with MFC-MRD measurement is the most useful tool for risk group stratification of children with BCP-ALL in the reduced-intensity protocols. However, this algorithm can be supplemented with cytogenetic data for part of the ImR group.

21 days ago

Journal • Minimal residual disease

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

22d

Latest Findings on the Role of RUNX1 in Bone Development and Disorders (PubMed, Sichuan Da Xue Xue Bao Yi Xue Ban)

However, the roles of RUNX1 in regulating the hypertrophic differentiation of chondrocytes, the sexual dimorphism of activities of osteoclasts, as well as bone loss in diabetes mellitus, senescence, infection, chronic inflammation, etc, are still not fully understood. This review provides a systematic summary of the research progress concerning RUNX1 in the field of bone biology, offering new ideas for using RUNX1 as a potential target for bone related diseases, especially osteoarthritis, delayed fracture healing, and osteoporosis.

22 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1)

RUNX1 mutation

22d

A comparative analysis of the clinical and genetic profiles of blast phase BCR::ABL1-negative myeloproliferative neoplasm and acute myeloid leukemia, myelodysplasia-related. (PubMed, Int J Lab Hematol)

MPN-BP and AML-MR harbor similar somatic mutations and clinical outcomes, suggesting a unified clinical disease entity.

22 days ago

Journal

TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • SETBP1 (SET Binding Protein 1) • CALR (Calreticulin)

TP53 mutation • DNMT3A mutation • ASXL1 mutation • TET2 mutation • SRSF2 mutation • U2AF1 mutation

24d

A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias. (PubMed, Genes Chromosomes Cancer)

Whole transcriptome analysis showed that overexpression of HOXA9 differentiated t(X;21) from both controls and t(8;21)-positive AML. In conclusion, we characterized a new recurrent reciprocal t(X;21)(p11.4;q22.12) chromosome translocation in MDS and AML, generating simultaneous BCOR and RUNX1 deletions rather than a fusion gene at the genomic level.

24 days ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • 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) • BCOR (BCL6 Corepressor) • HOXA9 (Homeobox A9) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

TET2 mutation • EZH2 mutation • SRSF2 mutation

24d

Lower relapse incidence with haploidentical versus matched sibling or unrelated donor hematopoietic cell transplantation for core-binding factor AML patients in CR2: A study from the Global Committee and the Acute Leukemia Working Party of the European Society for Blood and Marrow Transplantation. (PubMed, Am J Hematol)

There was no difference on LFS, OS or GRFS. CBF AML patients with inv(16) had a better progonosis than those with t(8;21) after allo-HCT in CR2.

24 days ago

Journal

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

25d

Identification of the characteristics and prognostic impact of FUS::ERG and RUNX1::CBFA2T3 fusion genes in adult acute myeloid leukemia patients. (PubMed, Am J Hematol)

No abstract available

25 days ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • FUS (FUS RNA Binding Protein) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3)

25d

Tyrosine phosphorylation of CARM1 promotes its enzymatic activity and alters its target specificity. (PubMed, Nat Commun)

The presence of the JAK2-V617F mutant kinase renders acute myeloid leukemia (AML) cells less sensitive to CARM1 inhibition, and we show that the dual targeting of JAK2 and CARM1 is more effective than monotherapy in AML cells expressing phospho-CARM1. Thus, the phosphorylation of CARM1 by hyperactivated JAK2 regulates its methyltransferase activity, helps select its substrates, and is required for the maximal proliferation of malignant myeloid cells.

25 days ago

Journal

JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • PABPC1 (Poly(A) Binding Protein Cytoplasmic 1)

JAK2 V617F • JAK2 mutation

27d

Erythroid predominance in bone marrow biopsies of AML patients after decitabine treatment correlates with mutation profile and complete remission. (PubMed, Pathobiology)

We conclude that early histological bone marrow examination for the development of an EDR may be helpful to predict response in AML patients during treatment with DAC.

27 days ago

Journal • Biopsy

RUNX1 (RUNX Family Transcription Factor 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)

RUNX1 mutation • U2AF1 mutation

decitabine

29d

Pharmacological inhibition of RAS overcomes FLT3 inhibitor resistance in FLT3-ITD+ AML through AP-1 and RUNX1. (PubMed, iScience)

However, cytokine-mediated drug resistance can be overcome by a pan-RAS inhibitor. We show that cytokines instruct AML growth via the transcriptional regulators AP-1 and RUNX1 and that pan-RAS drugs bypass this barrier.

29 days ago

Journal

FLT3 (Fms-related tyrosine kinase 3) • RUNX1 (RUNX Family Transcription Factor 1)

30d

IKZF1PLUS alterations contribute to outcome disparities in Hispanic/Latino children with B-lymphoblastic leukemia. (PubMed, Pediatr Blood Cancer)

Our study shows enrichment of high-risk genetic variants in H/L B-ALL and raises consideration for novel therapeutic targets.

30 days ago

Journal

ABL1 (ABL proto-oncogene 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • P2RY8 (P2Y Receptor Family Member 8) • DUX4 (Double Homeobox 4)

CDKN2A deletion • IKZF1 deletion • CRLF2 rearrangement

Gene expression prognostic of early relapse risk in low-risk B-cell acute lymphoblastic leukaemia in children. (PubMed, EJHaem)

In another validation cohort including 78 children with low-risk ETV6::RUNX1-negative B-cell ALL, high TIMD4 expression at diagnosis had an HR = 3.93 [1.31, 11.79] (p = 0.01). Our results suggest high TIMD4 expression at diagnosis in low-risk B-cell ALL in children might be associated with high risk for early relapse.

1 month ago

Journal

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

RUNX1-BMP2 promotes vasculogenic mimicry in laryngeal squamous cell carcinoma via activation of the PI3K-AKT signaling pathway. (PubMed, Cell Commun Signal)

BMP2 predicts poor prognosis in LSCC, promotes LSCC VM and metastasis through the PI3K-AKT signaling pathway, and is transcriptionally regulated by RUNX1. BMP2 may be a novel, precise, diagnostic, and therapeutic biomarker of LSCC.

1 month ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • RUNX1 (RUNX Family Transcription Factor 1) • BMP2 (Bone Morphogenetic Protein 2)

circRNAs as prognostic markers in pediatric acute myeloid leukemia. (PubMed, Cancer Lett)

Through the integration of drug sensitivity data, we pinpointed 25 drugs that could target high-risk AMLs characterized by aberrant circRNA transcription. These findings underscore prognostic significance of circRNAs in pediatric AML and offer an alternative perspective for treating high-risk cases in this malignancy.

1 month ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)

RUNX1 regulates promoter activity in the absence of cognate DNA binding motifs. (PubMed, J Cell Biochem)

RUNX1-ETO supresses activity when it is recruited to promoters containing a sequence specific motif, while interestingly, it binds but does not repress promoters devoid of a RUNX1 recognition site. These data suggest that RUNX1 regulation of target genes occurs through multiple mechanisms depending on genomic location, the type of regulatory element and mode of recruitment.

1 month ago

Journal

RUNX1 (RUNX Family Transcription Factor 1)

What is new in acute myeloid leukemia classification? (PubMed, Blood Res)

AML cases defined by differentiation (WHO2022) and AML not otherwise specified (ICC) are categorized as lacking specific defining genetic abnormalities, WHO2022 labels this as a myeloid neoplasm post cytotoxic therapy (MN-pCT), described as an appendix after specific diagnosis. Similarly, in ICC, it can be described as "therapy-related", without a separate AML category.

1 month ago

Review • Journal

TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

TP53 mutation • U2AF1 mutation • CEBPA mutation

Pemigatinib After Chemotherapy for the Treatment of Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)

P1, N=32, Recruiting, OHSU Knight Cancer Institute | Trial completion date: Aug 2024 --> Feb 2026 | Trial primary completion date: Feb 2024 --> Aug 2025

1 month ago

Trial completion date • Trial primary completion date

TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • 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) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • DEK (DEK Proto-Oncogene) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

TP53 mutation • FLT3 mutation • RUNX1 mutation • ASXL1 mutation • EZH2 mutation • MLL rearrangement • SRSF2 mutation • U2AF1 mutation • BCOR mutation • Chr del(5q) • STAG2 mutation • FLT3 wild-type • Chr t(9;11) • ZRSR2 mutation

cytarabine • Pemazyre (pemigatinib) • daunorubicin • Starasid (cytarabine ocfosfate)

Mutational and transcriptional landscape of pediatric B-cell precursor lymphoblastic lymphoma. (PubMed, Blood)

Tyrosine kinase/cytokine-receptor rearrangements were detected in 7% of BCP-LBL. These results indicate that genetic subtypes can be identified in BCP-LBL using next-generation sequencing, even on FFPE tissue, and may be relevant to guide treatment.

1 month ago

Journal

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

hsa‑miR‑455‑3P as a predictive biomarker of anemia in patients with non‑small cell lung cancer treated with carboplatin plus paclitaxel. (PubMed, Oncol Lett)

The most prevalent adverse reactions in patients with lung cancer treated with carboplatin + paclitaxel were hematological, particularly anemia. This adverse reaction, caused by dysfunction of the hematopoietic system, may be explained by a possible association between the important genes in this system, RUNX1 and TAL1, and hsa-miR-455-3p.

1 month ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • MIR127 (MicroRNA 127) • MIR3613 (MicroRNA 3613) • MIR455 (MicroRNA 455)

carboplatin • paclitaxel

Veno-venous extracorporeal membrane oxygenation for capillary leak syndrome during induction chemotherapy in acute myeloid leukemia (PubMed, Rinsho Ketsueki)

A 44-year-old woman was diagnosed with acute myeloid leukemia (RUNX1::RUNX1T1 translocation) and received induction chemotherapy with idarubicin hydrochloride and cytosine arabinoside. The patient received consolidation chemotherapy, and has maintained complete remission. Severe respiratory failure during induction chemotherapy for acute leukemia can be fatal, but VV-ECMO may be lifesaving.

1 month ago

Journal

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

cytarabine • idarubicin hydrochloride

Terminal deoxynucleotidyl transferase expression in different subtypes of childhood B-cell acute lymphoblastic leukemia. (PubMed, Pathol Res Pract)

Moreover, several aberrant markers, such as CD2, CD56, CD7, and CD117, were rarely expressed in the B-ALL samples, and if expressed, they were enriched in specific genetic subtypes. The results of this study indicate that immunophenotypic features are correlated with specific genetic subtypes of childhood B-ALL.

1 month ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • NCAM1 (Neural cell adhesion molecule 1) • CD7 (CD7 Molecule) • CD2 (CD2 Molecule) • MEF2D (Myocyte Enhancer Factor 2D)

KMT2A rearrangement • MLL rearrangement

A senescence restriction point acting on chromatin integrates oncogenic signals. (PubMed, Cell Rep)

Consistent with a tumor suppressor role for this network, the levels of ETV4 and RUNX1 are very high in benign lesions of the pancreas but decrease dramatically in pancreatic ductal adenocarcinomas. The discovery of senescence commitment and its chromatin-linked regulation suggests potential strategies for reinstating tumor suppression in human cancers.

1 month ago

Journal

RUNX1 (RUNX Family Transcription Factor 1) • MAFB (MAF BZIP Transcription Factor B) • SLC22A1 (Solute Carrier Family 22 Member 1) • ETV4 (ETS Variant Transcription Factor 4)

2ms

Somatic gene mutation patterns and burden influence outcomes with enasidenib in relapsed/refractory IDH2-mutated AML. (PubMed, Leuk Res)

In multivariable analyses, RAS and RTK pathway mutations were significantly associated with decreased overall survival, after adjusting for treatment arm, IDH2 variant, and mutational burden. Importantly, enasidenib-mediated survival benefit was more pronounced in patients with IDH2-R172 variants.

2 months ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1)

NRAS mutation • IDH2 mutation • DNMT3A mutation • TMB-L • IDH2 R140 • IDH2 R172

Idhifa (enasidenib)

2ms

Dachshund Homolog 1: Unveiling Its Potential Role in Megakaryopoiesis and Bacillus anthracis Lethal Toxin-Induced Thrombocytopenia. (PubMed, Int J Mol Sci)

Furthermore, we observed an upregulation of DACH1 during in vitro differentiation of CD34-megakaryocytes and downregulation of DACH1 in patients with thrombocytopenia. In summary, our findings shed light on one of the molecular mechanisms behind LT-induced thrombocytopenia and unveil a previously unknown role for DACH1 in megakaryopoiesis.

2 months ago

Journal

MAP2K1 (Mitogen-activated protein kinase kinase 1) • RUNX1 (RUNX Family Transcription Factor 1) • CD34 (CD34 molecule) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • DACH1 (Dachshund Family Transcription Factor 1) • ZFP36 (ZFP36 Ring Finger Protein)

2ms

Differential prognostic values of the three AKT isoforms in acute myeloid leukemia. (PubMed, Sci Rep)

Curiously, although modestly varying among AML samples, a high AKT1 expression shows in contrast as a strong predictor of a better patient outcome. These data suggest that AKT3 and AKT1 expressions have strong, yet opposite, prognostic values.

2 months ago

Journal

NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • AKT2 (V-akt murine thymoma viral oncogene homolog 2) • AKT3 (V-akt murine thymoma viral oncogene homolog 3)

NPM1 mutation • RUNX1 mutation • ASXL1 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • BCOR mutation • AKT2 expression • AKT3 expression

2ms

Multicenter evaluation of minimal residual disease monitoring in early induction therapy for treatment of childhood acute lymphoblastic leukemia (PubMed, Zhonghua Er Ke Za Zhi)

The higher the level of MRD in early induction therapy, the worse the OS. The MRD levels on day 15 is an independent prognostic factor for RFS.The MRD in early induction therapy guided accurate risk stratification and individualized treatment can improve the survival rate of pediatric ALL.

2 months ago

Journal • Minimal residual disease

RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6)

MLL rearrangement

2ms

Kinome expression profiling improves risk stratification and therapeutic targeting in myelodysplastic syndromes. (PubMed, Blood Adv)

By investigating the Genomics of Drug Sensitivity in Cancer (GDSC) database, we identified axitinib and taselisib as candidate compounds that could potentially target the KISS-high myeloblasts. Altogether, our findings suggest that KISS holds the potential to improve the current prognostic scheme of MDS and inform novel therapeutic opportunities.

2 months ago

Journal

TP53 (Tumor protein P53) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • STAG2 (Stromal Antigen 2) • PTK7 (Protein Tyrosine Kinase 7) • MAST4 (Microtubule Associated Serine/Threonine Kinase Family Member 4) • PAK6 (P21 (RAC1) Activated Kinase 6)

TP53 mutation • STAG2 mutation

Inlyta (axitinib) • taselisib (GDC-0032)

2ms

Natural history of clonal haematopoiesis seen in real-world haematology settings. (PubMed, Br J Haematol)

The mean variant allele frequency across all genes was higher in progressors than in non-progressors (36.9% ± 4.62% vs. 24.1% ± 1.67%, p = 0.0064). This analysis in the post-CHRS era underscores the natural history of CH, providing insight into patterns of progression to MN.

2 months ago

Journal • Real-world evidence • Real-world

DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)

DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation

2ms

Clinical analysis of allogeneic hematopoietic stem cell transplantation for seven cases of acute myeloid leukemia with BCR::ABL1 fusion (PubMed, Zhonghua Xue Ye Xue Za Zhi)

In addition, allo-HSCT could enhance the molecular response rate. Maintenance therapy post-HSCT with TKI could improve prognosis.

2 months ago

Journal

ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PHF6 (PHD Finger Protein 6)

NPM1 mutation • RUNX1 mutation • ASXL1 mutation • PHF6 mutation • ABL1 fusion