Acute Myeloid Leukemia Research

Acute Myeloid Leukemia with deletion 5q is an epigenetically distinct subgroup defined by heterozygous loss of KDM3B

The paper identifies del(5q) AML as an epigenetically distinct subgroup driven by KDM3B haploinsufficiency, linked to DNA hypermethylation and H3K9me1/2 dysregulation.

Reinforced identity confers cells with cancer hallmarks

This study identifies reinforced cell identity as a driver of cancer development and demonstrates a drug targeting this identity in AML.

Single-Cell Atlas of AML Reveals Age-Related Gene Regulatory Networks in t(8;21) AML

The paper integrates scRNA-seq data to create an AML single-cell atlas, revealing age-related gene regulatory networks in t(8;21) AML and identifying BCLAF1 as a prognostic indicator.

Shared Genetic and Regulatory Mechanisms in AcuteMyeloid Leukaemia and Blast Crisis Chronic MyeloidLeukaemia

This study identifies shared genetic and regulatory mechanisms between AML and BC CML, highlighting common genes and pathways that may serve as therapeutic targets.

The long non-coding RNA FAM30A regulates the Musashi2-RUNX1 axis and is required for LSC function in AML cells

This study identifies FAM30A as a regulator of LSC function in AML by interacting with MSI2 and RUNX1, enhancing stemness and chemoresistance.

Risk of Incident Cytopenia in Clonal Hematopoiesis

The paper analyzes sequencing data from three cohorts to quantify cytopenia incidence and identify risk factors in clonal hematopoiesis, finding higher cytopenia rates and progression to myeloid neoplasms.

Distinct gene regulatory networks govern hematopoietic and leukemia stem cells

This study identifies distinct gene regulatory networks in hematopoietic stem cells and leukemia stem cells using integrated gene expression and chromatin accessibility data from AML patients and human umbilical cord blood.

Pexidartinib plus FLT3-directed CAR-Macrophage for the treatment of FLT3-ITD-mutated acute myeloid leukemia in preclinical model

This study shows that combining pexidartinib with FLT3-directed CAR-macrophages reduces leukemic burden and improves survival in FLT3-ITD+ AML xenograft models.

No evidence of immunosurveillance in mutation-hotspot driven clonal haematopoiesis

The paper investigates whether immunosurveillance affects clonal haematopoiesis by analyzing MHC binding to mutation hotspots in UK Biobank data, finding no evidence of such influence.

Replication of a GWAS signal near HLA-DQA2 with acute myeloid leukemia using a disease-only cohort and external population-based controls

The paper replicates a GWAS signal near HLA-DQA2 associated with AML risk using a disease-only cohort and external population-based controls, finding a stronger effect in patients with NPM1 mutations.

Identification of novel myelodysplastic syndromes prognostic subgroups by integration of inflammation, cell-type composition, and immune signatures in the bone marrow

The paper integrates inflammation, cell-type composition, and immune signatures in MDS to identify prognostic subgroups using MOFA, finding that high inflammation correlates with better prognosis while SRSF2 mutations are linked to poor outcomes.

The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations

The paper develops a method to quantify somatic mutation burden in whole-genome sequencing data without paired-tissue samples and identifies genetic and phenotypic correlates of clonal hematopoiesis without known driver mutations.

Dissecting the transcriptional regulation of infant and childhood acute myeloid leukemia

This study identifies age-specific gene groups and regulatory circuits in pediatric AML through transcriptomic analysis, revealing new biomarkers and therapeutic targets.

Metabolic alterations drive inflammatory phenotypes in CHIP-associated heart failure

This study shows that DNMT3A mutations in CHIP lead to metabolic changes in macrophages that drive inflammation, and targeting these changes can improve heart failure outcomes.

Adaptive resistance to FLT3 inhibitors is potentiated by ROS-driven DNA repair signalling

This study identifies ATM-driven DNA repair and ROS addiction as mechanisms of resistance to FLT3 inhibitors in AML and shows ATM inhibition can overcome resistance in vitro and in vivo.

NPMc+ and Flt3-ITD cooperation promotes a new oncogenic HSC state that supports transformation and leukemia stem cell maintenance

This study shows that NPMc+ and Flt3-ITD cooperate to create a new quiescent HSC state that supports leukemia transformation and stem cell maintenance.

Evolutionary dynamics in the decades preceding acute myeloid leukaemia

This study uses serial blood samples to analyze pre-cancerous evolutionary dynamics in acute myeloid leukaemia, showing how driver mutations accumulate and drive clonal expansion over decades.

Dynamic Localization of Leukemia Stem Cells via CXCL12 Regulates Leukemia Progression

This study shows that the CXCL12 gradient, regulated by DPP4 and GPC3, determines leukemia stem cell (LSC) localization and behavior, influencing leukemia progression.

Latent mitotic vulnerability of AML cells induced by therapeutic agents

This study identifies mitotic vulnerabilities in AML cells induced by therapeutic agents, showing increased cytotoxicity during mitosis compared to S/G2 phase arrest.

Targeting Metabolic Dependencies in Acute Myeloid Leukemia: A Dual Strategy using Arsenic Trioxide and Artesunate.

This study investigates the combination of artesunate and arsenic trioxide to treat AML with reduced off-target effects on normal hematopoietic stem cells.

Multi-omics analysis of longitudinal patient samples reveals the molecular mechanism of AML progression

This study uses multi-omics analysis to identify genetic and epigenetic changes in AML progression and relapse.

Single-cell transcriptomics reveal individual and synergistic effects of Trisomy 21 and GATA1s on hematopoiesis

This study uses single-cell RNA-sequencing to analyze the individual and combined effects of Trisomy 21 and GATA1s on hematopoietic progenitor cells, revealing their impact on lineage skew and proliferation.

IRF2BP2 counteracts the ATF7/JDP2 AP-1 heterodimer to prevent inflammatory overactivation in acute myeloid leukemia (AML) cells

This study shows IRF2BP2 counteracts the ATF7/JDP2 AP-1 heterodimer to prevent excessive inflammation in AML cells, revealing a potential therapeutic target.

Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis

The paper develops machine learning models to identify clonal hematopoiesis driver mutations, outperforming existing methods and applying them to UK Biobank data to confirm known associations.

Determinants of mosaic chromosomal alteration fitness

The paper estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

Epigenenomic and transcriptomic characterization of NPM1-mutated CN-AML subtypes

The paper characterizes NPM1-mutated AML subtypes using epigenomic and transcriptomic data, revealing distinct clinical and molecular features based on H3K27me3 levels at the HIST1 cluster.

Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential

UNISOM improves CHIP detection from low-coverage sequencing data by combining variant calling with machine learning classification, identifying low-VAF mutations with high sensitivity.

Genome-Wide CRISPR-Cas9 Screening Identifies a Synergy between Hypomethylating Agents and SUMOylation Blockade in MDS/AML

This study identifies a synergy between hypomethylating agents and SUMOylation blockade in MDS/AML using CRISPR-Cas9 screening, showing improved therapeutic outcomes in xenograft models.

Cost-effective and scalable clonal hematopoiesis assay provides insight into clonal dynamics

The paper introduces a cost-effective CHIP assay, identifies 101 CHIP cases in a cohort, and finds heterogeneity in clonal expansion rates by driver gene and individual.

Plasticity and Dynamics of Hematopoietic Cells within Bone Marrow Microenvironment in Leukemia

This study investigates plasticity and dynamics of hematopoietic cells in leukemia using scRNA-seq and identifies cell transitions and correlations between B- and T-cell leukemias.