bims-tremyl Biomed News
on Therapy resistance biology in myeloid leukemia
Issue of 2026–07–05
38 papers selected by
Paolo Gallipoli, Barts Cancer Institute, Queen Mary University of London



  1. Blood Cancer J. 2026 Jun 29.
      Monotherapy with hypomethylating agents (HMA) remains the standard of care for patients with higher-risk myelodysplastic neoplasms (HR-MDS). Recently, the randomized phase III VERONA study evaluating azacitidine plus venetoclax (VEN) versus azacitidine plus placebo in newly diagnosed HR-MDS showed no difference in overall survival (OS) between the two arms. However, whether the addition of VEN to HMA improves outcomes among subsets of patients with HR-MDS remains debated. We analyzed 1907 patients with HR-MDS from 31 centers in 9 countries who were treated with HMA monotherapy or HMA/VEN in the frontline setting (HMA monotherapy: n = 1773; HMA/VEN: n = 134). Responses were assessed centrally by two investigators using the IWG 2023 response criteria. Addition of VEN improved composite complete remission (cCR) rates (48.8% vs. 27.7%; p < 0.001) but not CR rates (17.1% vs. 11.7%; p = 0.16). In multivariable logistic regression analysis, cCR remained favorable for HMA/VEN vs. HMA monotherapy (Odds Ratio [OR]: 2.49; 95% CI: 1.56-3.96; p < 0.001). However, we did not observe a statistically significant difference in OS for HMA/VEN vs. HMA monotherapy (Hazard Ratio [HR]: 0.83; 95% CI: 0.64-1.07; p = 0.15). In subgroup analyses, patients with TP53 wild-type disease (HR: 0.47; 95% CI: 0.29-0.74; p = 0.002) had a significant improvement in OS and those with ≥10% bone marrow blasts (HR: 0.73; 95% CI: 0.53-1.01; p = 0.06) had a trend towards OS benefit with HMA/VEN.
    DOI:  https://doi.org/10.1038/s41408-026-01543-6
  2. Am J Hematol. 2026 Jul 02.
      Frameshift mutations in exon 12 of nucleophosmin 1 (NPM1mut) are among the most common mutations in acute myeloid leukemia (AML) and have historically been considered favorable-risk in the absence of FLT3-ITD. In the European LeukemiaNet (ELN) 2024 risk-classification for patients treated with hypomethylating agents plus venetoclax (HMA + VEN), NPM1mut is not considered favorable when co-occurring with signaling gene (SG) mutations (i.e., FLT3-ITD, NRAS, KRAS). However, due to limited numbers in the original analysis, the prognostic impact of SG mutations in NPM1-mutant AML remains unclear. We evaluated the prognostic significance of NPM1mut with and without SG mutations in two independent cohorts of patients ≥ 60 years with ELN 2024 favorable- or intermediate-risk AML treated with HMA + VEN. Cohort 1 included 322 patients treated in the academic setting. NPM1mut (n = 61) was associated with a nonsignificantly longer overall survival (OS) compared to NPM1 wild-type (NPM1wt) (median, 53.05 vs. 17.03 months, p = 0.10). In multivariable analysis (MVA), SG mutations were not independently prognostic within the NPM1mut subgroup. Cohort 2 included 816 patients from a real-world community-treated cohort. NPM1mut (n = 124) had a longer OS compared with NPM1wt (median, 15.3 vs. 14.4 months, p = 0.03). In MVA, NRAS, KRAS, and FLT3-ITD were independent unfavorable prognostic factors; NPM1mut with, compared to without, SG co-mutation had a shorter OS (median, 9.4 vs. 31.6 months, p = 0.001). These findings suggest SG mutations negate the favorable impact of NPM1mut in older patients treated with HMA + VEN. Prospective clinical trials are needed to investigate the use of combination therapies to improve outcomes in this high-risk subgroup.
    DOI:  https://doi.org/10.1002/ajh.70419
  3. J Clin Oncol. 2026 Jul 02. JCO2600347
    PRISM-AML Investigators
       PURPOSE: As risk stratification for patients with AML treated with lower-intensity venetoclax-based therapy remains suboptimal, we developed and validated a prognostic model integrating clinical, cytogenetic, and molecular features.
    METHODS: We assembled a multinational data set comprising 2,092 adults with newly diagnosed AML treated with hypomethylating agents plus venetoclax (HMA + VEN). One thousand nine hundred eighteen patients with complete data were randomly divided into training (70%) and internal validation (30%) cohorts. Two independent external validation cohorts were assembled (n = 500 and n = 222). Modeling overall survival (OS), Elastic Net regression was applied in 1,000 bootstrap samples from the training cohort to select variables for a Ridge regression, which generated a continuous Prognostic Risk Integration for Survival Modeling (PRISM) score and risk categories based on tertiles (PRISM-3: low, moderate, high). These PRISM indices were then computed for the validation cohorts and compared with the 4-gene classifier (based on mutations in FLT3-ITD, N/KRAS, and TP53).
    RESULTS: PRISM integrated 17 clinical and genomic variables and demonstrated a linear association with OS. PRISM-3 stratified survival consistently across all cohorts (median OS: 25.1-28.8 months for low risk, 12.5-14.7 months for moderate risk, and 5.8-6.7 months for high risk; P < .001). Compared with the 4-gene classifier, PRISM-3 reassigned approximately 40% of patients (and >50% of those with favorable risk) and demonstrated significantly better discrimination in validation cohorts (C-index 0.63-0.65 v 0.59-0.61; P < .05).
    CONCLUSION: PRISM is a validated prognostic model for patients with AML receiving HMA + VEN that improves survival risk stratification beyond current standard tools and supports individualized, risk-adapted clinical decision making. The model is publicly available at prism-aml.com.
    DOI:  https://doi.org/10.1200/JCO-26-00347
  4. Haematologica. 2026 Jul 02.
      Oral decitabine/cedazuridine plus venetoclax offers a fully oral regimen for older or unfit patients with acute myeloid leukemia (AML). We previously reported outcomes from a phase II study; here we present extended follow-up of the frontline cohort. In this single-center phase II study, adults with AML ineligible for intensive induction received oral decitabine/cedazuridine (35 mg/100 mg, days 1-5) plus venetoclax in 28-day cycles. This analysis included newly diagnosed (ND) AML. Endpoints included overall response rate (ORR), overall survival (OS), relapse-free survival (RFS), duration of response (DOR) and safety. Outcomes were compared between de novo and secondary AML. Between March 2021, and January 2026, 68 patients were treated, including 32 de novo and 36 secondary AML; median age was 79 years. The cohort was high risk, with >50% ECOG ≥2, less favorable genomics and 16% prior hypomethylating agents exposure. ORR was 75% in de novo AML and 58% in secondary AML. Among responders, MRD negativity was 58% and 56%. With median follow-up of 32 months, median OS was 12.7 months (95% CI, 9.1-20.3) vs 7.2 months (95% CI, 3.6-29.9) (P = 0.61). Median RFS was 9.2 months vs 11.7 months (P = 0.56). No statistically significant differences were observed in survival, relapse or non-relapse mortality. Oral decitabine/cedazuridine plus venetoclax is an effective oral treatment for older or unfit patients with ND AML. Response rates were higher in de novo AML, while survival outcomes were not statistically significant. These findings highlight the need for improved therapeutic strategies particularly in secondary AML.
    DOI:  https://doi.org/10.3324/haematol.2026.301126
  5. Blood. 2026 Jun 30. pii: blood.2025032710. [Epub ahead of print]
      Leukemia stem cells (LSCs) drive acute myeloid leukemia (AML) initiation, relapse, and chemoresistance, yet the core post-translational events sustaining LSC maintenance remain poorly defined. Here, through phosphoproteomic profiling of normal hematopoietic stem and progenitor cells (HSPCs) versus LSC-enriched populations, we identify DEK phosphorylation as a critical modification during leukemogenesis. Functional studies in MLL-AF9- and HOXA9/MEIS1-driven AML mouse models, as well as patient-derived xenografts (PDXs), demonstrate that DEK deficiency impairs LSC maintenance and AML progression. Moreover, DEK deletion enhances LSC chemosensitivity to the standard-of-care combination of azacitidine and venetoclax (Aza/Ven), whereas DEK overexpression confers robust chemoresistance. Mechanistically, DEK recruits the transcription factor GABPA to upregulate the transcriptional cofactor PBX3, a key oncogenic driver in AML, thereby sustaining the leukemogenic transcriptional program. This DEK-GABPA interaction strictly depends on DEK phosphorylation at Ser301/303/306/307 (the 4S sites), which stabilizes the conformation of the DEK-GABPA complex. We identify casein kinase 2 (CK2) as the upstream kinase that directly phosphorylates DEK-4S sites. Importantly, blockade of DEK phosphorylation via 4S site mutagenesis or treatment with the clinical-stage CK2 inhibitor CX-4945 selectively depletes LSCs while sparing normal HSPCs. Furthermore, combining CX-4945 with venetoclax promotes LSC apoptosis and represses the PBX3-driven leukemogenic transcriptional program, exhibiting synergistic anti-AML effects both in vitro and in vivo. Collectively, our findings uncover a previously unrecognized phosphorylation event (DEK-4S phosphorylation) that sustains LSCs and establish the CK2-DEK axis as a promising LSC-specific therapeutic strategy for AML.
    DOI:  https://doi.org/10.1182/blood.2025032710
  6. Bone Marrow Transplant. 2026 Jun 27.
      Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative option for secondary acute myeloid leukemia (sAML). Post-transplant cyclophosphamide has improved graft-versus-host disease (GVHD) prophylaxis, enabling the broader use of alternative donors. For patients lacking a human leukocyte antigen (HLA)-matched donor, haploidentical donor (Haplo) or 9/10 HLA mismatched unrelated donor (MMUD) HSCTs are widely used, yet their relative effectiveness in sAML is uncertain. We retrospectively compared outcomes after Haplo versus MMUD HSCT in adults with sAML in first complete remission transplanted between 2010 and 2022. Among 711 patients, 602 received Haplo and 109 MMUD grafts. Patient and transplant characteristics differed between cohorts, including donor age, conditioning intensity, graft source, and transplant year. Neutrophil recovery was faster after MMUD transplantation, while platelet recovery was comparable. Rates of acute and chronic GVHD, relapse incidence, non-relapse mortality, overall survival, leukemia-free survival, and GVHD-free/relapse-free survival were similar. Reduced intensity conditioning lowered acute GVHD risk, while peripheral blood grafts increased chronic GVHD. Lower Karnofsky score, older age and adverse-risk cytogenetics were adverse prognostic factors. Haplo and MMUD transplantation demonstrated comparable efficacy and safety with post-transplant cyclophosphamide, supporting both approaches as viable alternatives in the absence of an HLA-matched donor.
    DOI:  https://doi.org/10.1038/s41409-026-02951-9
  7. J Hematol Oncol. 2026 Jun 27.
       BACKGROUND: Acute myeloid leukemia (AML) with persistent measurable residual disease (MRD) and relapsed/refractory myelodysplastic syndromes (MDS) are low-blast myeloid diseases for which there are few effective therapeutic options. CD123 represents an attractive target in these diseases. Vibecotamab is a bispecific antibody that binds to CD123 on malignant blasts and to CD3 on T-cells, to recognize and eliminate CD123-positive malignant cells.
    METHODS: This single-center phase II study evaluated the efficacy of vibecotamab in patients AML with detectable MRD (AML-MRD cohort) or with MDS or chronic myelomonocytic leukemia (CMML) after hypomethylating agent failure (MDS/CMML cohort). In cycle 1, patients received vibecotamab IV on day 1 (0.43 µg/kg), day 3 (0.75 µg/kg), day 5 (1.1 µg/kg), and days 8, 15 and 22 (1.7 µg/kg). In subsequent cycles, patients received vibecotamab IV on days 1, 8, 15, and 22 (1.7 µg/kg). The primary outcomes were MRD negativity rate (AML-MRD cohort) and overall response (MDS/CMML cohort).
    RESULTS: Between May 2022 and April 2025, 48 patients were enrolled (21 AML-MRD cohort, 27 MDS/CMML cohort). The median ages of the AML-MRD and the MDS/CMML cohorts were 70 and 76 years, respectively. In the AML-MRD cohort, the median MRD level by flow cytometry was 0.64% (range, 0.1-3.9%), and in the MDS/CMML, the median bone marrow blast percentage was 7% (range, 3-19%). The AML-MRD clearance rate was 19% (4/21; 95% CI 5-42%), and in the MDS/CMML cohort, the overall response rate was 67% (18/27; 95% CI 46-83%). The median overall survival was 13.1 months (95% CI 8.9-NR) for the AML-MRD cohort and 6.5 months (95% CI 4.2-10.3) for the MDS/CMML cohort. The most frequent adverse event was infusion reaction or cytokine relapse syndrome, which occurred in 29 patients (60%) overall, most of which were grade 1-2.
    CONCLUSIONS: Vibecotamab was active in low-blast myeloid diseases, although the durability of responses was modest. Additional studies of CD123-targeting bispecific antibodies, alone or in combination, are warranted for these diseases.
    TRIAL REGISTRATION: Clinicaltrials.gov (NCT05285813).
    Keywords:  Acute myeloid leukemia; Bispecific antibody; Chronic myelomonocytic leukemia; Clinical trial; Immunotherapy; Measurable residual disease; Myelodysplastic syndromes
    DOI:  https://doi.org/10.1186/s13045-026-01825-3
  8. Blood. 2026 Jun 30. pii: blood.2025032360. [Epub ahead of print]
      The Phase 3 TRANSFORM-1 study (NCT04472598) evaluated ruxolitinib (RUX) in combination with navitoclax (NAV) or placebo (PBO) in Janus-kinase-inhibitor-naïve adults with intermediate-2 or high-risk myelofibrosis and Eastern Cooperative Oncology Group performance status ≤2. Patients were randomized 1:1 to NAV (200 mg/day starting dose or 100 mg escalated to 200 mg/day) or PBO, with RUX dosed per label. The primary endpoint was ≥35% spleen volume reduction (SVR) at Week 24 (SVR35W24). Secondary endpoints included change from baseline in Total Symptom Score (TSS) at Week 24 and SVR35 at any time. A total of 252 patients (NAV+RUX, n=125; PBO+RUX, n=127; median follow-up 20.3 months) were randomized; >80% had intermediate-2 risk and nearly 50% were high-molecular risk (HMR). SVR35W24 was achieved by 63.2% with NAV+RUX versus 31.5% with PBO+RUX (P<0.0001). Mean change in TSS at Week 24 was not significantly different between NAV+RUX and PBO+RUX (-10.2 vs -11.6; P=0.2852). SVR35 at any time was achieved in 76.8% with NAV+RUX versus 44.1% with PBO+RUX (nominal P<0.0001). A ≥20% variant allele frequency reduction (exploratory endpoint) occurred in 58.5% (95% CI: 49.0-67.5) with NAV+RUX and 45.5% (95% CI: 36.4-54.8) with PBO+RUX. NAV+RUX showed higher hematologic toxicity versus PBO+RUX (Grade 3/4 thrombocytopenia: 54.0% vs 19.2%; Grade 3/4 neutropenia: 40.3% vs 8.8%); diarrhea (any grade: 41.9% vs 16.8%) was also more common. Cytopenias were generally manageable and reversible with dose adjustments.
    DOI:  https://doi.org/10.1182/blood.2025032360
  9. Res Sq. 2026 Jun 25. pii: rs.3.rs-10046174. [Epub ahead of print]
      A general puzzle in stem-cell and ageing biology is why a few cellular clones come to dominate an ageing tissue while otherwise similar neighbours do not, a fate that the average transcriptional state of a cell predicts poorly. Here we ask whether the variability between sister cells of a clone, rather than their transcriptional state, is the property that predicts ageing-associated clonal selection, using the haematopoietic stem cell (HSC) as a tractable test case. We combine heritable lineage tracing with single-cell RNA sequencing across heterochronic and homochronic transplantation models to link early transcriptional states of individual HSC clones to their long-term functional output in vivo. To quantify transcriptional heterogeneity at clonal resolution, we developed a computational framework (scCloneVar) that estimates mean-adjusted gene expression variance and identifies differentially variable genes (DVG). We found that ageing increases transcriptional heterogeneity at both the cellular and clonal levels, reflected by elevated variability in gene expression programs that regulate stem cell activity. We observe polyclonal expansion of HSC independently of the age of the host or the donor mice; however, individual clones in heterochronic transplantations show reduced self-renewal and fitness compared to sister clones in homochronic transplantations, indicating better adaptation of HSC clones in age-matched microenvironments. Strikingly, transcriptional features measured prior to transplantation predict clonal self-renewal at later time points, with transcriptional variability, captured by DVG, providing predictive power beyond that captured by mean expression differences. DVG-associated programs are conserved across mouse and human HSC, are established by middle age, and are enriched in pathways relevant to clonal haematopoiesis and myeloid malignancy risk. Together, our findings support a model in which ageing expands transcriptional heterogeneity that tracks with subsequent clonal selection, rendering clonal fate partially predictable from early cellular states.
    DOI:  https://doi.org/10.21203/rs.3.rs-10046174/v1
  10. Am J Hematol. 2026 Jun 29.
      Quizartinib is a tyrosine kinase inhibitor with single agent activity in patients with relapsed or refractory (R/R) acute myeloid leukemia (AML) and has demonstrated efficacy in first-line therapy when combined with intensive chemotherapy in both FLT3 ITD-negative and positive AML. The FLAG-QUIDA trial was a multicenter phase 1/2 study of quizartinib combined with FLAG-IDA in adult patients with first R/R AML. The primary objectives were to determine the recommended phase 2 dose (RP2D) in phase 1 and to establish the complete remission (CR) and CR with incomplete hematologic recovery (CRi) rates in phase 2. Nine patients were included in phase 1 and 52 in phase 2. Eighteen out of 61 (30%) patients were FLT3-ITD-positive. The RP2D of quizartinib was established at 60 mg/day for 14 days per 28-day cycle. Overall, the CR/CRi rate was 56% (n = 34), and the CR/CRi plus morphologic leukemia free state (MLFS) rate was 66% (n = 40), without differences across genetic subgroups. Measurable residual disease negativity was achieved in 38% (n = 13) of CR/CRi patients. Thirty-one patients (51%) were bridged to allogeneic stem cell transplantation after FLAG-QUIDA, 28 in CR/CRi and 3 in MLFS. Median relapse-free survival was 17 months as compared to 7.6 months in a cohort of matched patients treated with FLAG-IDA without quizartinib (p = 0.028), and median overall survival was 15.8 months in the FLAG-QUIDA cohort and 8.6 months in the matched cohort (p = 0.09). No safety concerns were raised. FLAG-IDA with quizartinib demonstrated promising efficacy in R/R AML, supporting future investigations. Trial Registration: EudraCT number: 2019-001976-12; ClinicalTrials.gov identifier: NCT04112589.
    Keywords:  acute myeloid leukemia; chemotherapy; quizartinib; relapse
    DOI:  https://doi.org/10.1002/ajh.70424
  11. Blood. 2026 Jun 29. pii: blood.2025032363. [Epub ahead of print]
      MLL-rearranged (MLLr) acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL) involve reciprocal translocations of the KMT2A (MLL1) gene with various translocation partner genes, which yields oncogenic chimeric MLL1 fusion proteins (MLL-FPs). Menin, the protein product of the MEN1 gene, is essential for the leukemogenic activity of MLL-FPs. Revumenib is a small-molecule inhibitor that selectively disrupts the menin-MLL interaction, and it is now in clinical use for treatment of MLLr and NPM1-mutated (NPM1c) acute leukemia. Notably, menin also interacts with the JUND member of the AP-1 transcription factor family through a conserved protein sequence in the MLL1/2 binding pocket of menin. Despite this structural similarity, the impact of menin-MLL inhibitors on JUND function has remained unexplored. Here, we investigated the influence of menin-MLL inhibitors on JUND activity. Quantitative mass spectrometry analysis of MLLr leukemic cells demonstrated that menin-MLL inhibitors also disrupt menin-JUND interactions. Furthermore, CRISPR-mediated inactivation of JUND or pharmacological inhibition using JNK inhibitors synergistically enhanced the anti-leukemic effects of menin-MLL inhibitors leading to reduced cell proliferation, cell cycle arrest and apoptosis. RNA sequencing and chromatin binding assays revealed that menin-MLL inhibitor treatment increased JUND chromatin occupancy leading to upregulation of target genes and contributing to resistance against menin-MLL inhibitors. Immunocompromised mice engrafted with JUND-deficient leukemia cells exhibited reduced tumor burden compared to control mice engrafted with wild type leukemic cells. These findings reveal a role for JUND in MLLr AML and suggest that targeting JUND transcription factor activity enhances the efficacy of menin-MLL inhibitors towards MLLr leukemic cells.
    DOI:  https://doi.org/10.1182/blood.2025032363
  12. Am J Hematol. 2026 Jul 03.
       DISEASE OVERVIEW: The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.
    DIAGNOSIS: Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy. Information obtained from additional studies such as karyotype, flow cytometry, and molecular genetics is usually complementary and may help refine diagnosis. Under the 2022 WHO classification of MDS, this entity is now termed myelodysplastic neoplasms.
    RISK-STRATIFICATION: Prognosis of patients with MDS can be calculated using a number of scoring systems. All these scores include analysis of peripheral cytopenias, percentage of blasts in the bone marrow, and cytogenetic characteristics. The most commonly used systems are the Revised International Prognostic Scoring System (IPSS-R) and the molecular IPSS-M.
    RISK-ADAPTED THERAPY: Therapy is selected based on risk, transfusion needs, percent of bone marrow blasts, cytogenetic and mutational profiles, comorbidities, potential for allogeneic stem cell transplantation (alloSCT), and prior exposure to hypomethylating agents (HMA). Goals of therapy are different in lower-risk patients than in higher-risk and in those with HMA failure. In lower risk, the goal is to decrease transfusion needs and transformation to higher-risk disease or AML, as well as to improve survival. In higher-risk, the goal is to prolong survival. In 2020, two agents were approved in the US for patients with MDS: luspatercept and oral decitabine/cedazuridine. Imetelstat was approved in 2024 for transfusion-dependent lower-risk MDS. Other available therapies include growth factors, lenalidomide, HMAs, intensive chemotherapy, and alloSCT. A number of combinations studies have been completed at the time of this report; none of them was superior to single-agent azacitidine. There are no approved interventions for patients with progressive or refractory disease, particularly after HMA-based therapy. AlloSCT still remains the only curative approach in MDS.
    DOI:  https://doi.org/10.1002/ajh.70405
  13. BMC Cancer. 2026 Jun 27. pii: 777. [Epub ahead of print]26(1):
       BACKGROUND: Acute myeloid leukemia (AML) remains a challenging disease with a poor prognosis, necessitating more personalized therapeutic strategies. Retinoic acid receptor (RAR) activation is crucial for myeloid differentiation, but non-APL AML cells resist differentiation induced by the pan-RAR agonist all-trans retinoic acid (ATRA). Am80 (tamibarotene), a specific RARA agonist, has been reported to partially overcome this resistance in AML with high RARA expression. However, its effects on myeloid differentiation, especially in comparison to ATRA, remain understudied.
    METHODS: In this study we compared the effects of Am80 and ATRA in non-APL AML samples, focusing on subsets with high RARA and/or RARG expression, using molecular and phenotypic differentiation assessments.
    RESULTS: In contrast to previous findings, Am80 showed no advantage over ATRA in inducing differentiation in AML cell lines or primary samples, regardless of RARA and RARG expression levels. Cotreatment with inhibitors of the epigenetic modifiers LSD1 and GCN5, which facilitates retinoid-induced myeloid differentiation, enhanced the effects of both Am80 and ATRA to the same extent, with more pronounced responses observed in RARA-high samples. Gene expression analysis revealed identical molecular responses to Am80 and ATRA.
    CONCLUSIONS: The study provides evidence that ATRA can be substituted by the more stable Am80 in retinoid-based AML therapies. It also identifies elevated RARA expression as a potential marker for sensitivity to combination therapy with retinoids and epigenetic inhibitors in AML.
    Keywords:  AML; ATRA; Am80; RARA; Tamibarotene
    DOI:  https://doi.org/10.1186/s12885-026-16388-2
  14. Haematologica. 2026 Jul 02.
      Many patients with chronic myeloid leukemia (CML) treated with adenosine triphosphate (ATP)-competitive tyrosine kinase inhibitors (TKIs) experience persistent adverse events (AEs) that negatively impact daily living and the ability to remain on treatment. Asciminib, an allosteric inhibitor of BCR::ABL1, was designed to enhance efficacy and reduce off-target effects vs ATPcompetitive TKIs. The phase 3 randomized ASC4FIRST trial established the overall favorable safety profile of asciminib in patients with newly diagnosed CML in chronic phase (CP). This exploratory post hoc analysis of ASC4FIRST focused specifically on the tolerability of asciminib vs imatinib and asciminib vs second-generation [2G] TKIs. Analyses were conducted within each stratum to account for differences between strata; patients prerandomized to the imatinib stratum were older and had higher cardiovascular risk than those in the 2G stratum. Within both strata, patients receiving asciminib experienced fewer difficult-to-tolerate AEs (such as gastrointestinal toxicity, rash, and pleural effusion) and fewer AEs leading to dose modifications and discontinuations due to nonhematologic and hematologic AEs vs the investigator-selected (IS) TKI comparator, with a shorter median duration of dose modification. Additionally, median onset of AEs leading to dose modification occurred later in patients receiving asciminib vs ISTKIs. The safety and tolerability of asciminib observed in the ASC4FIRST trial demonstrate asciminib's excellent benefit-risk profile as a frontline therapy for a broad range of patients with newly diagnosed CML-CP.
    DOI:  https://doi.org/10.3324/haematol.2025.300145
  15. Leukemia. 2026 Jun 30.
      Myelodysplastic neoplasms (MDS) disrupt bone marrow hematopoiesis, yet clinical assessment relies largely on blast enumeration and qualitative morphology, which incompletely capture marrow architecture and disease state. We applied whole-slide multiplex immunofluorescence imaging with single-cell phenotyping to map bone marrow microarchitecture in MDS. Diagnostic biopsies (n = 36), longitudinal treatment samples (n = 29), precursor states (n = 13), and normal controls (n = 21) were analyzed, comprising >5 million spatially resolved cells. MDS marrow exhibited coordinated, genotype-imprinted architectural remodeling, including altered progenitor composition and spatial patterning, disrupted erythroid island organization, and displacement of hematopoietic stem and progenitor cells from perivascular niches. Interrogation of 82 cellular and spatial features yielded a composite Microarchitectural Perturbation Score (MDS-MAPS), derived from diagnostic samples and fixed prior to longitudinal analyses. In leave-one-patient-out cross-validation, MDS-MAPS discriminated remission from active disease more accurately than blast percentage (AUC 0.883 vs 0.660) and distinguished low-blast MDS from clonal cytopenia of undetermined significance (CCUS) (AUC 0.815). Mixed-effects modeling showed MAPS decreased in remission statistically independent of blast burden, with architectural normalization during remission and re-emergence at relapse. These findings define quantitative bone marrow architecture as a dynamic tissue-state biomarker that complements molecular and blast-based assessment in MDS.
    DOI:  https://doi.org/10.1038/s41375-026-03029-7
  16. Blood Adv. 2026 Jun 30. pii: bloodadvances.2026019848. [Epub ahead of print]
      Pre-mRNA splicing gene mutations are common in MDS and CMML and induce R-loops which trigger ATR activation. We studied ceralasertib, an orally bioavailable ATR inhibitor, in adult patients with R/R MDS or CMML in a phase Ib/II study including a safety run-in and expansion of 160mg BID during a 28-day cycle on two schedules: days 1-14 (14on/14off) or days 1-7 and 15- 21 (7on/7off). Response rates and survival were estimated. Forty-four evaluable patients were treated. Grade 3 or higher all-cause adverse events in 10% or more patients included thrombocytopenia (n=13), anemia (n=12), neutropenia (n=9), febrile neutropenia (n=9), pneumonia (n=6), and hypoxia (n=5). Thrombocytopenia requiring a platelet transfusion during the first cycle was reduced to 1 of 10 patients on 7on/7off compared to 8 of 16 patients on 14on/14off among patients with a baseline platelet count >50k (p=0.087). ORR was 29.5% (13 of 44 patients) and included one CR, 5 marrow CR (2 with HI-N), and 7 with HI (HI-E=4, HI-N=2, HI-P=1). Median PFS was 4.8mo and OS was 12 months (95%CI 11, 24). ORR (p=0.72), PFS (p=0.9) and OS (p=0.65) did not differ between schedules. While splicing factor mutation VAFs were stable, RUNX1 mutation VAFs typically increased at progression. Serum inflammatory cytokine levels including TNFRSF8 (CD30) and other TNF family members decreased during ceralasertib exposure; this effect was blunted in RUNX1 mutant samples. In conclusion, ceralasertib 160mg BID d1-7 and 15-21 was established as monotherapy dosing with a response rate of 30% in patients with R/R MDS and CMML. NCT03770429.
    DOI:  https://doi.org/10.1182/bloodadvances.2026019848
  17. Bone Marrow Transplant. 2026 Jun 27.
      Allogeneic stem-cell transplantation (allo-SCT) is met with increased toxicity and relapse in elderly patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The nonmyeloablative conditioning (NMAC) regimen combining 2GyTBI, fludarabine, and cyclophosphamide (FluCyTBI) with post-transplant cyclophosphamide (PTCy) has been described as well adapted to AML/MDS patients aged ≥70yo in the haplo-identical setting. PTCy has then been implemented as basis for GVHD prophylaxis in allo-SCT with unrelated donors (UD). We here report our experience with a single FluCyTBI+PTCy platform for both haplo and UD allo-SCT in older AML or high-risk MDS patients. We retrospectively analyzed 203 patients transplanted at our center between 2015 and 2024. Median age at transplant was 69. Donors were haplo, mismatched UD, and matched UD in 64%, 18% and 18% of patients, respectively. Day+100 grade III-IV acute GVHD (aGVHD) and 3-y moderate/severe chronic GVHD (cGVHD) rates were 8% and 18%. Donor age ≥35yo was predictive of increased aGVHD III-IV and female-to-male sex-mismatch was associated with increased moderate/severe cGVHD. 3-y NRM rate was 15%. 3-y OS was 62%, with only monosomal karyotype predicting worse survival. FluCyTBI+PTCy is safe and produces promising outcomes in both haplo and UD settings. Beyond HLA-matching, non-HLA donor-related factors constitute critical determinants of patient outcome.
    DOI:  https://doi.org/10.1038/s41409-026-02957-3
  18. Nat Genet. 2026 Jun 29.
      The theory of immunosurveillance posits that T cells eliminate clones harboring nonself-antigens generated by somatic mutations. Although a role of immunosurveillance in cancer is supported by evidence, whether it affects precancerous expansions has not been well established. Here we studied the association between MHC-variant binding and risk of clonal hematopoiesis (CH), a blood precancer state, predicting MHC binding affinity toward CH hotspot variants in 380,000 UK Biobank participants and examining the relationship between predicted binding to each variant and its expansion risk. Despite the study being powered to detect subtle differences in selective pressure, we did not find associations between predicted binding and CH prevalence for any of the examined variants. In CH-affected individuals, we identified no relationship between predicted variant binding and clone size. Overall, we found no evidence that the MHC genotype affects which variants expand in CH, suggesting a limited role for immunosurveillance in shaping clonal expansions in the blood.
    DOI:  https://doi.org/10.1038/s41588-026-02594-y
  19. Sci Transl Med. 2026 Jul;18(856): eadz3553
      Targeted immunotherapies have revolutionized outcomes for lymphoid malignancies, but success in myeloid neoplasms is limited by the lack of amenable targets and immunologically hostile tumor microenvironment (TME). Myeloproliferative neoplasms (MPNs) are chronic myeloid blood cancers, a third of which are driven by mutations in calreticulin. Calreticulin mutant protein (mutCALR) binds and activates thrombopoietin receptor (TpoR) and results in the display of the mutCALR-TpoR complex on the extracellular membrane of disease-driving cells, thus exposing a therapeutic vulnerability. Here, we present a chimeric antigen receptor T cell (CAR T cell) therapy that specifically targets mutCALR+ cells, both in vitro and in vivo. The CAR T cell therapy selectively depleted mutCALR+ stem cells in samples from patients with myelofibrosis without affecting healthy stem cells and improved survival in mutCALR leukemia xenograft models. To mimic myelofibrotic marrow, we developed a human "chimeroid" model and showed no decrease in the potency of CAR T cell-mediated target cell killing even in a fibrotic TME. We also devised a method to boost the cell surface expression of mutCALR in CD34+ cells isolated from patients with accelerated/blast phase MPNs (defined as >10% blasts in the peripheral blood or bone marrow), enhancing CAR T cell targeting. This study presents a therapeutic strategy with potential to eradicate mutCALR-driven malignancies and highlights an innovative strategy to evaluate blood cancer-targeting immunotherapies in a relevant TME.
    DOI:  https://doi.org/10.1126/scitranslmed.adz3553
  20. medRxiv. 2026 Jun 24. pii: 2026.06.22.26356227. [Epub ahead of print]
      Mitochondrial DNA (mtDNA) heteroplasmy, the coexistence of multiple mtDNA variants within cells, accumulates with age and is associated with hematological malignancies and mortality. However, whether predicted deleterious heteroplasmies causally contribute to cancer or merely represent passenger mutations remains unresolved. Here, leveraging ∼36,000 first-degree relative pairs from the UK Biobank and All of Us Research Program cohorts, we deconvolute overall heteroplasmy metrics into those that are shared across family members (representing inherited variants) and those that are not (representing de novo variants) to establish a Mendelian randomization framework for assessing causality. We show that shared heteroplasmies exhibit strong purifying selection, with reduced predicted deleteriousness compared to not shared variants, and that 90% of an individual's deleterious heteroplasmy burden is somatically acquired. Critically, shared deleterious heteroplasmy burden, fixed at conception and thus temporally upstream of potential confounders, is significantly associated with hematological malignancies (RR=2.81, 95% CI 1.29-6.13), with effect sizes concordant with the not shared heteroplasmy burden. Furthermore, shared deleterious heteroplasmy specifically associates with high-risk clonal hematopoiesis of indeterminate potential (CHIP), particularly spliceosome mutations, suggesting mitochondrial dysfunction promotes clonal expansion of specific CHIP subtypes. Finally, we identify ultra-rare individual mtDNA variants associated with hematological malignancies, a hallmark of driver mutations. These findings establish mtDNA heteroplasmies, including inherited variants, as causal contributors to hematological malignancy risk and demonstrate that most disease-relevant burden is acquired during life, identifying potential opportunities for prevention and therapeutic intervention in individuals at elevated risk for hematological cancer, particularly of myeloid origin.
    DOI:  https://doi.org/10.64898/2026.06.22.26356227
  21. Semin Hematol. 2026 Jun 03. pii: S0037-1963(26)00049-1. [Epub ahead of print]
      Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by chronic hemolytic anemia, painful vaso-occlusive episodes, and end-organ damage. Population-level studies indicate individuals with SCD are at an increased risk for myeloid neoplasia (MN). While the absolute risk of MN remains low, fatal cases of myelodysplastic syndrome and acute myeloid leukemia suggest MN risk is enhanced in the setting of curative cellular therapies for SCD, including allogeneic hematopoietic cell transplantation and autologous gene therapy. Clonal hematopoiesis (CH), the expansion of a genetically related population of hematopoietic stem or progenitor cells, is commonly caused by mutations in myeloid leukemia driver genes and is a recognized precursor state for MNs, including myelodysplastic syndrome and acute myeloid leukemia. This review synthesizes current data on MN incidence in SCD populations, prevalence of adverse-risk CH in SCD, and clustering of high-risk subtypes of MN among cases involving SCD patients. CH emerges as a potential biological mechanism linking SCD to increased susceptibility to MN with implications for clinical research and counseling of patients with SCD.
    Keywords:  Sickle cell disease; clonal hematopoiesis; curative therapy; myeloid malignancy
    DOI:  https://doi.org/10.1053/j.seminhematol.2026.05.008
  22. Bone Marrow Transplant. 2026 Jul 02.
      Allogeneic hematopoietic cell transplantation (allo-HCT) can cure acute leukemia, but relapse and non-relapse mortality restrict its success. Existing models focus on single prognostic areas and are not designed to predict leukemia-free survival (LFS), the outcome that best reflects allo-HCT's curative intent. In this large retrospective cohort of allografted AL patients (N = 24,317), we combined key pre-transplant patient, disease, and treatment factors into a practical holistic H-score to predict post-allo-HCT LFS. Component weights were derived from Cox-regression hazard ratios in a training cohort (N = 19,029). The model was validated in a geographically split testing cohort (N = 4760), with outcomes assessed using Kaplan-Meier analysis and multivariate Cox models. In the overall cohort (N = 24,317), 2-year overall survival and LFS were 64% and 56%, respectively. The H-score stratified patients into four risk groups, with 2-year LFS ranging from 66.2% in the low-risk group to 32.0% in the very high-risk group. The H-score was the strongest independent predictor of LFS (p < 0.0001), outperforming individual indices and offering more refined risk stratification. The H-score was also an independent predictor of overall survival, relapse, and non-relapse mortality. While individual prediction is limited, the H-score aids patient counseling and provides a useful baseline for comparing new transplant treatments.
    DOI:  https://doi.org/10.1038/s41409-026-02950-w
  23. Nat Commun. 2026 Jun 30.
      Cancer cells adapt to treatment, leading to the emergence of clones that are more aggressive and resistant to anti-cancer therapies. We have a limited understanding of resistance mechanisms as we lack technologies to map cancer evolution under the selective pressure of treatment. To address this, we present a hierarchical, dynamic lineage-tracing method, FLARE (Following Lineage Adaptation and Resistance Evolution). We use FLARE to track the progression of acute myeloid leukemia (AML) cell lines treated with Cytarabine (AraC), a front-line treatment in AML, both in vitro and in vivo. We map distinct cellular lineages in both murine and human AML cell lines that are predisposed to AraC resistance. Using FLARE, we identify treatment-naïve populations responsible for seeding resistance that are characterized by upregulation of stemness markers and a cell adhesion-associated AraC-resistant lineage signature. We find that expression of this signature in pediatric AML is associated with the expansion of HSC-like malignant cells at relapse and significantly shorter overall survival. These findings underscore the role of pre-existing lineage states in driving relapse and establish FLARE as a platform for uncovering the evolving, heritable transcriptional programs that underlie tumor evolution.
    DOI:  https://doi.org/10.1038/s41467-026-74989-8
  24. Leukemia. 2026 Jun 30.
      Acute megakaryoblastic leukemia (AMKL) is a rare, aggressive subtype of acute myeloid leukemia with developmental origins in early childhood. To uncover long noncoding RNAs (lncRNAs) sustaining this high-risk malignancy, we conducted CRISPR interference screens targeting lncRNAs overexpressed in primary AMKL samples. This analysis identified SNHG29 as a previously unrecognized lineage-specific dependency, whose silencing profoundly impaired leukemic proliferation and clonogenic growth in vitro and reduced leukemic burden in vivo. RNA pulldown coupled with proteomic analysis revealed that SNHG29 interacts with the oncofetal RNA-binding protein IGF2BP1, which is aberrantly expressed in AMKL. SNHG29 was required to maintain expression of IGF2BP1 target transcripts, including MYC- and E2F-driven proliferative programs, thereby reinforcing fetal transcriptional programs essential for leukemic maintenance. Pharmacologic inhibition of IGF2BP1-RNA interactions with the small-molecule BTYNB induced potent and selective cytotoxicity in patient-derived AMKL models. Together, these findings uncover a developmental co-dependency between SNHG29 and IGF2BP1 that defines a lineage-restricted oncogenic circuit and an actionable therapeutic vulnerability in AMKL.
    DOI:  https://doi.org/10.1038/s41375-026-03040-y
  25. Nat Immunol. 2026 Jun 29.
      Acute myeloid leukemia (AML) is a blood cancer with poor survival outcomes. Acute respiratory failure frequently occurs due to leukemia infiltration of the lungs. Underlying mechanisms remain unexplored and therapeutic interventions remain empiric. Here we map the AML lung microenvironment at spatial and single-cell resolution. We show that extensive remodeling is coupled with inflammation and impaired tissue integrity and function. Steroid treatment significantly reduces AML burden and lung infiltration, improving oxygenation and pulmonary function. As a mechanistic correlate, the S-type lectin Lgals9 is triggered by inflammation and mediates cell-cell interactions within infiltrated lungs. Also, the alarmin IL-33 and its receptor (IL-1RL1) are involved in cell-cell interactions within the leukemic lung microenvironment. Targeting either the Lgals9 or IL-33 axis significantly decreases overall AML burden and lung infiltration through effects on both the immune microenvironment and AML cells. Our studies delineate pulmonary infiltration phenotypes in acute leukemia, enabling new treatment strategies.
    DOI:  https://doi.org/10.1038/s41590-026-02582-8
  26. Nat Aging. 2026 Jun 30.
      Telomeres progressively shorten and accumulate damage with aging, and this contributes to cellular senescence and hematopoietic dysfunction. We previously showed that telomere dysfunction induces synthesis of telomeric noncoding RNAs required for activation of the telomeric DNA damage response (tDDR), a driver of senescence and inflammation. However, whether the tDDR causally impairs hematopoiesis remained unclear. Here we show in telomerase-deficient Terc-/- mice, which recapitulate telomere-driven hematopoietic dysfunction and aging, that targeting telomeric noncoding RNAs with telomeric antisense oligonucleotides (tASO) suppresses tDDR in hematopoietic organs, reduces senescence and inflammation, alleviates hematopoietic dysfunction, and enhances hematopoietic stem cell fitness and repopulating potential in vivo. Similar observations were recapitulated in aged wild-type mice, and ex vivo treatment with tASO improved the function of human hematopoietic stem cells from aged donors. Taken together, our results identify tDDR as a pathogenic driver of hematopoietic decline and support tASO-mediated tDDR inhibition as a potential therapeutic strategy for telomere biology disorders and age-associated hematopoietic aging.
    DOI:  https://doi.org/10.1038/s43587-026-01136-9
  27. Aging Dis. 2026 Jun 27.
      Hematopoietic stem cells (HSCs) reside in the adult bone marrow and sustain the lifelong production of blood and immune cells. The processes of HSC quiescence, activation, and aging are complex and are orchestrated by a combination of intrinsic and extrinsic stimuli. Similarly, leukemic stem cells (LSCs) are responsible for the initiation of leukemia and drug resistance. Metabolic adaptations are critical for these processes, and research in this area is rapidly evolving. In this review, the metabolic programs, including glycolysis, mitochondrial metabolism, and amino acid and lipid metabolism, of young HSCs, aged HSCs, leukemia blasts, and LSCs are comparatively presented, with a greater focus on aged HSCs and LSCs, as aging and leukemia represent substantial health challenges. The clinical implications of metabolic vulnerabilities, either for rejuvenating aged HSCs or selectively killing LSCs, are also discussed.
    DOI:  https://doi.org/10.14336/AD.2026.0302
  28. Cell Stem Cell. 2026 Jul 02. pii: S1934-5909(26)00204-3. [Epub ahead of print]33(7): 1205-1222.e11
      Chronic stress influences hematopoietic stem cells (HSCs). However, how psychological stress regulates HSC function remains incompletely understood. Here, we show that psychological stress impairs HSC self-renewal and lymphoid differentiation, inducing aging-like phenotypes. Stress suppresses neuronal activity in the medial prefrontal cortex (mPFC) and periaqueductal gray (PAG), leading to HSC dysfunction, whereas chemogenetic activation of these regions restores HSC function. Psychological stress or chemogenetic inhibition of the mPFC and PAG reduces the abundance of L. reuteri in the gut microbiota and lowers spermidine levels. Mechanistically, spermidine depletion suppresses mitochondrial autophagy, promotes mitochondrial peroxidative stress, and increases ferroptotic stress in HSCs. We further demonstrate that mPFC and PAG activity regulate the intestinal environment through a sympathetic pathway, reducing intestinal mucin levels, L. reuteri abundance, and spermidine levels. These findings identify a brain-gut-bone marrow axis linking psychological stress to aging-like HSC dysfunction through sympathetic regulation of intestinal microbiota and spermidine metabolism.
    Keywords:  aging; autophagy; hematopoietic stem cell; intestinal environment; lymphoid differentiation; metabolism; microbiota; psychological stress; spermidine; sympathetic pathway
    DOI:  https://doi.org/10.1016/j.stem.2026.05.012
  29. Blood. 2026 Jul 02. pii: blood.2025032693. [Epub ahead of print]
      Bone marrow (BM) fibrosis in primary and post-polycythemia vera/essential thrombocythemia myelofibrosis (MF) has traditionally been considered a reactive process driven by cytokines, such as transforming growth factor (TGF)-β1, primarily produced by neoplastic megakaryocytes and platelets. These cytokines promote the differentiation of wild-type mesenchymal stromal cells into collagen- and fibronectin-producing myofibroblasts, thereby inducing BM fibrosis. However, hematopoietic-derived collagen-producing cells of monocyte lineage, termed fibrocytes, have also been implicated in this process. Here, we demonstrate that fibrocytes constitute a major collagen-producing cell population in the BM of patients with JAK2V617F-mutated MF, with additional contributions from myofibroblasts. Analysis of BM samples from patients with JAK2V617F-mutated myeloproliferative neoplasms (MPNs) revealed that fibrocytes accounted for nearly two-thirds of collagen-producing cells, whereas myofibroblasts represented a smaller subset. Using BM-derived fibrocytes from Jak2V617F transgenic mice (Jak2V617F mice), we performed a high-throughput drug screen and identified statins as inhibitors of fibrocyte proliferation in vitro. In vivo, pitavastatin treatment reduced fibrocyte numbers, ameliorated BM fibrosis, and improved anemia in Jak2V617F mice. Pitavastatin also decreased TGF-β1 production by neoplastic fibrocytes, resulting in reduced myofibroblast expansion. Peripheral blood-derived fibrocytes from patients with JAK2V617F-mutated MPNs were similarly sensitive to pitavastatin in vitro. Together, these findings suggest that fibrocytes substantially contribute to BM fibrosis in JAK2V617F-mutated MF and support further investigation of pitavastatin as a potential antifibrotic strategy in this molecular subset.
    DOI:  https://doi.org/10.1182/blood.2025032693
  30. Nat Commun. 2026 Jul 02.
      Congenital Dyserythropoietic Anaemia type I (CDA-I) is a rare inherited disorder of erythropoiesis, in which erythroid cells display a unique nuclear phenotype referred to as 'spongy' heterochromatin. The molecular basis of CDA-I remains unknown, with most cases of CDA-I caused by mutations in CDAN1, encoding Codanin-1, or CDIN1, encoding for Codanin-1-interacting nuclease 1 (CDIN1). To date, very little is known about the function of CDA-I disease proteins and the mechanism by which their associated mutations cause disease. Here, we demonstrate that endogenous CDIN1 interacts with Codanin-1, to form a stable complex. Structural and functional analysis of this complex reveals that the CDIN1-Codanin-1 complex is an RNA nuclease. We shed light on the key mechanistic features of the complex using biochemical and biophysical approaches, complemented by all-atom molecular dynamics (MD) structural simulations. We identify various functional consequences of founder patient mutations on the RNA nuclease activity of CDIN1, providing a framework for understanding the pathophysiology and developing therapeutic strategies for CDA-I.
    DOI:  https://doi.org/10.1038/s41467-026-74766-7
  31. Cell Death Dis. 2026 Jun 30.
      Acute myeloid leukemia (AML) exhibits metabolic reprogramming that supports immune evasion and treatment resistance. The kynurenine pathway (KP) is a key regulator of tumor-immune interactions, yet its downstream organization and clinical relevance in AML remain unclear. Here, we combined in vitro models with patient serum profiling to determine whether KP branching patterns are associated with treatment response. Extracellular KP metabolites were quantified in AML cell lines (HL-60 and MOLM-14) following induction regimens, and quantified circulating KP metabolites in patient serum samples collected from AML patients before and after induction therapy. Treatment was associated with normalization of tryptophan depletion and kynurenine accumulation in responders, indicating partial restoration of systemic KP homeostasis. Notably, baseline (pre-treatment) samples from patients who were later classified as non-responders exhibited a distinct metabolic phenotype characterized by persistent kynurenine elevation, increased anthranilic and kynurenic acid levels, and enrichment of 3-hydroxykynurenine flux, suggesting preferential engagement of oxidative and immunomodulatory KP branches. Among evaluated metabolic indices, the 3-hydroxykynurenine-to-kynurenine ratio demonstrated the strongest discriminatory capacity for distinguishing response to induction therapy (DA: daunorubicin + cytarabine; DAC: daunorubicin + cytarabine + cladribine), outperforming individual metabolite measurements and highlighting functional pathway flux rather than absolute metabolite abundance as a determinant of clinical outcome.
    DOI:  https://doi.org/10.1038/s41419-026-09050-z
  32. Leukemia. 2026 Jul 01.
      Purinergic signaling has emerged as a key regulator of hematopoietic stem and progenitor cell (HSPC) trafficking, metabolism, and innate immune responsiveness. Our previous studies demonstrated that extracellular ATP promotes HSPC mobilization, homing, and engraftment by activating P2X purinergic receptors and engaging the Nlrp3 inflammasome downstream, whereas enzymatic conversion of ATP to extracellular adenosine exerts opposite, anti-inflammatory effects. Subsequently, we postulated that purinergic signaling is an evolutionarily ancient regulatory system that remains intrinsically embedded within the hematopoietic stem cell program. However, its transcriptional organization across distinct human HSPC subsets remains unknown. We applied single-cell RNA sequencing to human umbilical cord blood-derived CD133⁺Lin⁻CD45⁺ and CD34⁺Lin⁻CD45⁺ cells enriched for HSPCs. We identified transcriptionally distinct clusters representing primitive progenitors and lineage-primed intermediates, and we demonstrated a hierarchical organization of purinergic receptors and nucleotide-metabolizing enzymes across these populations. Primitive HSPCs exhibited a restricted purinergic repertoire coupled with intracellular nucleotide recycling machinery, consistent with a tightly regulated metabolic-immune state. Lineage-biased clusters showed selective enrichment of receptors and ectonucleotidases associated with inflammatory activation, migration, and fate commitment. Together, these findings establish purinergic signaling as a fundamental, cell-intrinsic regulator of early hematopoiesis and highlight how this ancient signaling pathway shapes human stem cell fate decisions.
    DOI:  https://doi.org/10.1038/s41375-026-03031-z