Beibei Xie, Fengli Li, Wanying Xue, Qing Zhang, Furun An, Zhimin Zhai, Hui Qin, Yi Dong, Xin Liu, Qianshan Tao
{"title":"Clinical Features and Prognostic Impact of Splicing Factor Mutations and Their Co-Mutations in Acute Myeloid Leukemia.","authors":"Beibei Xie, Fengli Li, Wanying Xue, Qing Zhang, Furun An, Zhimin Zhai, Hui Qin, Yi Dong, Xin Liu, Qianshan Tao","doi":"10.1159/aha/abkag006","DOIUrl":"10.1159/aha/abkag006","url":null,"abstract":"<p><strong>Introduction: </strong>The clinical and prognostic significance of splicing factor (SF) mutations in newly diagnosed adult de novo acute myeloid leukemia (AML) remains incompletely defined. This study aimed to characterize the clinical features, co-mutation profiles, treatment responses, and prognostic impact of SF mutations in this population.</p><p><strong>Methods: </strong>We retrospectively analyzed 323 newly diagnosed adult patients with de novo non-acute promyelocytic leukemia AML treated between 2015 and 2023. Targeted next-generation sequencing assessed at least 32 recurrently mutated genes. SF-mutated (SFmut) status was defined by the presence of mutations in SF3B1, SRSF2, U2AF1, or ZRSR2. Clinical characteristics, co-mutation profiles, treatment regimens, treatment responses, and survival outcomes were compared between the SFmut and SF-wild-type (SFwt) groups. Survival was analyzed using Kaplan-Meier methods and Cox proportional hazards models.</p><p><strong>Results: </strong>SF mutations were identified in 58 of 323 patients (17.96%) and were largely mutually exclusive. Compared with SFwt patients, SFmut patients were more often male and older, had a higher CD4/CD8 ratio, and more frequently received low-intensity therapy. SFmut cases were enriched for co-mutations in ASXL1, RUNX1, CBL, IDH1, PHF6, SETBP1, BCORL1, and STAG2. The SFmut group had a lower composite complete remission rate than the SFwt group (50.9% vs. 71.3%, <mml:math id=\"m1\" xmlns:mml=\"http://www.w3.org/1998/Math/MathML\"><mml:mrow><mml:mi>p</mml:mi><mml:mo>=</mml:mo><mml:mn>0.003</mml:mn></mml:mrow></mml:math>) and significantly shorter overall survival (median, 6.73 vs. 19.07 months; <mml:math id=\"m2\" xmlns:mml=\"http://www.w3.org/1998/Math/MathML\"><mml:mrow><mml:mi>p</mml:mi><mml:mspace width=\"0.25em\" /><mml:mo><</mml:mo><mml:mspace width=\"0.25em\" /><mml:mn>0.001</mml:mn></mml:mrow></mml:math>). In the overall multivariable model, SFmut status, age ≥65 years, and WBC ≥100 × 109/L were independently associated with inferior overall survival, whereas intensive therapy was independently protective. Intermediate and adverse cytogenetic risk were also associated with progressively worse overall survival. SFmut status showed nonsignificant trends toward shorter overall survival in both treatment strata and was independently associated with poorer overall survival in the non-intensive, but not the intensive, subgroup; however, the interaction between SF status and treatment intensity was not significant. Exploratory unadjusted co-mutation analyses showed the most consistent adverse signals for SF/ASXL1 and SF/RUNX1, whereas other findings were heterogeneous or based on small subgroups.</p><p><strong>Conclusion: </strong>SF mutations define a clinically distinct subgroup of newly diagnosed adult de novo AML characterized by adverse co-mutation profiles, lower remission rates, and inferior survival. Their adverse prognostic effect was most evident among patients rece","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149163936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marcin Lewandowski, Maja Anna Kołodziejska, Jagoda Mikołajczyk, Artur Hawajski, Weronika Mielnicka, Jan Nowak, Stella Mieruszyńska, Julia Sławińska, Olga Szeidl, Anna Cupiał
{"title":"Lactoferrin as a Natural Modulator of Immunity and Iron Homeostasis: A Review of Current Knowledge.","authors":"Marcin Lewandowski, Maja Anna Kołodziejska, Jagoda Mikołajczyk, Artur Hawajski, Weronika Mielnicka, Jan Nowak, Stella Mieruszyńska, Julia Sławińska, Olga Szeidl, Anna Cupiał","doi":"10.1159/aha/abkag007","DOIUrl":"10.1159/aha/abkag007","url":null,"abstract":"<p><strong>Background: </strong>Lactoferrin is an iron-binding glycoprotein found in secretions and neutrophil granules that regulates iron availability in conjunction with host defense. Furthermore, it modulates innate and adaptive immune responses and affects iron handling during inflammation. Consequently, there is renewed interest in lactoferrin because of its potential therapeutic applications in iron deficiency, inflammatory disorders, and infectious diseases.</p><p><strong>Summary: </strong>This review summarizes the current knowledge regarding lactoferrin as a modulator of immunity and iron homeostasis, with an emphasis on recent experimental and clinical findings. Key results indicate that lactoferrin regulates NF-κB-mediated inflammation and the IL-6-hepcidin-ferroportin pathway, both of which are central to iron-restricted erythropoiesis. This review details how lactoferrin influences cytokine signaling, leukocyte function, and mucosal-microbiota interactions, which are relevant to iron sequestration and intestinal iron handling. Clinically, studies support the efficacy and tolerability of lactoferrin in iron deficiency anemia and anemia of inflammation, with outcomes varying according to the formulation, dosing, and duration. This review identifies the need for standardized biomarkers and harmonized endpoints for future research.</p><p><strong>Key messages: </strong>(i) Lactoferrin may influence immunity and iron availability in inflammatory anemia. (ii) Key pathways are NF-κB signaling and IL-6-hepcidin-ferroportin axis. (iii) Clinical results show that lactoferrin can improve hematological indices and shows good overall tolerability. (iv) Evidence derives from high-risk-of-bias or very small studies. (v) Therefore, there is a need for improved clinical trials with standardized endpoints and biomarkers.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149163488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Reed Alexander Firestone, Julia Palecki, Maya Rosenberg, Jason Chen, Xiaoying Zheng, Eesha Balar, Niti Patel, Lindsay Wilde, Gina Keiffer, Jun Choi, Catherine Lai, Margaret T Kasner, Chetan Jeurkar
{"title":"Oral Versus Intravenous Hypomethylating Agents in Myelodysplastic Syndromes and Acute Myeloid Leukemia: A Multicenter Real-World Toxicity Comparison.","authors":"Reed Alexander Firestone, Julia Palecki, Maya Rosenberg, Jason Chen, Xiaoying Zheng, Eesha Balar, Niti Patel, Lindsay Wilde, Gina Keiffer, Jun Choi, Catherine Lai, Margaret T Kasner, Chetan Jeurkar","doi":"10.1159/aha/abkag015","DOIUrl":"https://doi.org/10.1159/aha/abkag015","url":null,"abstract":"<p><strong>Background: </strong>Hypomethylating agents (HMAs) are a cornerstone of therapy for myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Oral formulations offer an alternative to intravenous (IV) administration, but comparative real-world toxicity data remain limited. We evaluated hematologic toxicity and adverse events associated with oral versus IV HMAs.</p><p><strong>Methods: </strong>We conducted a multicenter retrospective cohort study of 33 patients with MDS or AML treated with oral decitabine/cedazuridine or oral azacitidine between January 1, 2016 and June 1, 2023 across three academic cancer centers. Twenty patients who also received IV HMAs were included in an intrapatient paired analysis. Cytopenias were assessed by absolute values and percent change from baseline to nadir. Wilcoxon signed-rank tests were used for intrapatient comparisons, and clinically significant adverse events were recorded descriptively.</p><p><strong>Results: </strong>Among the 20 patients included in the intrapatient analysis, median decreases in hemoglobin were 20.8% during oral HMA therapy and 20.5% during IV HMA therapy. Median decreases in absolute neutrophil count were 95.9% and 97.3%, respectively, while median decreases in platelet count were 81.9% and 88.6%, respectively. No statistically significant differences were observed between oral and IV HMA therapy for hemoglobin (p = 0.60), absolute neutrophil count (p = 0.63), or platelet count (p = 0.06). Hospitalization occurred in 60.6% of patients during oral HMA therapy and 70.0% during IV HMA therapy, while neutropenic fever occurred in 51.5% and 60.0%, respectively.</p><p><strong>Conclusions: </strong>Oral HMAs demonstrated cytopenia severity and adverse event rates comparable to IV HMAs, supporting oral formulations as a practical alternative in patients with MDS and AML. Although encouraging, these findings should be interpreted in the context of the retrospective design and modest sample size.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Navigating the Immune Landscape: Balancing Efficacy and Toxicity of B-Cell Maturation Antigen-Targeting Agents in Multiple Myeloma.","authors":"Lan Tang, Wenwen Feng, Yu Bai","doi":"10.1159/aha/abkag002","DOIUrl":"10.1159/aha/abkag002","url":null,"abstract":"<p><strong>Background: </strong>Multiple myeloma is a plasma cell malignancy with a complex genomic landscape, and relapse remains common despite therapeutic advances. B-cell maturation antigen (BCMA), selectively expressed on malignant plasma cells, has emerged as a pivotal immunotherapeutic target. BCMA-directed therapies, including chimeric antigen receptor T cells and bispecific antibodies, have achieved unprecedented response rates in relapsed/refractory multiple myeloma (RRMM), yet their application into clinical practice is challenged by unique toxicities and resistance mechanisms.</p><p><strong>Summary: </strong>This review synthesizes current evidence on balancing the efficacy and toxicity of BCMA-targeted therapies. It details the mechanisms driving key immune-related toxicities including cytokine release syndrome, immune effector cell-associated neurotoxicity syndrome, and immune effector cell-associated hemophagocytic lymphohistiocytosis-like syndrome and delayed neurotoxicities. It also explores major resistance pathways such as BCMA antigen loss via genomic deletion or γ-secretase-mediated shedding. The article further evaluates risk-stratified management framework and discusses strategies to overcome resistance.</p><p><strong>Key messages: </strong>Optimizing the sequencing of BCMA-directed therapies, along with developing novel combination and multi-targeting strategies, is critical to improving long-term outcomes in RRMM.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Global Disparities in Multiple Myeloma Quality of Care Indicators and Their Association with Socioeconomic Development and Behavioral Risk Factors: An Analysis of GBD 2021 Data.","authors":"Yulu Liu, Yan Hou, Xiangdong Sun, Zhishuo Huan, Yingran Long, Jiajia Li, Xue Han, Jiangbo Zhang, Juanjuan Zhang","doi":"10.1159/aha/abkag004","DOIUrl":"10.1159/aha/abkag004","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to analyze global quality of multiple myeloma (MM) care and factors associated with its variation using the Quality of Care Index (QCI).</p><p><strong>Methods: </strong>Data were obtained from the Global Burden of Disease database. The QCI for MM was calculated globally and nationally using principal component analysis. Disparities were assessed via the gender disparity ratio (GDR), Slope Index of Inequality (SII), and Concentration Index. Future trends were projected using an Autoregressive Integrated Moving Average model. The ecological correlations of modifiable behavioral risk factors and the Sociodemographic Index (SDI) with the QCI were explored using logistic regression and stratified analysis with summary exposure value data.</p><p><strong>Results: </strong>The global MM care quality improved significantly (QCI: 45.76-59.24). Gender equity increased (GDR: 1.06 to 0.97), but cross-national inequality widened (SII: 36.07-54.19). SDI is strongly associated with QCI (R = 0.815, p < 0.001). Projections indicate that the global QCI for MM will rise from 59.24 in 2021 to 61.04 in 2036. High composite behavioral risk was positively associated with QCI (OR = 5.06, 95% CI: 2.81-9.31). Regarding the QCI of MM, a significant interaction was observed between high body mass index and the SDI, alongside a significant joint effect of the behavioral risk factors and the SDI. After adjusting for SDI in supplementary analyses, only dietary risks remained significantly associated with a lower QCI (OR = 0.919, 95% CI: 0.859-0.984).</p><p><strong>Conclusion: </strong>While our findings reveal substantial gains in MM care quality, they also underscore the critical need for heightened attention to regions with high dietary risks, particularly those with lower SDI. These ecological correlations warrant confirmation in individual-level studies.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Post-Marketing Safety of the Menin Inhibitor Revumenib: A Bayesian Disproportionality Analysis of a National Database.","authors":"Connor Frey","doi":"10.1159/aha/abkag014","DOIUrl":"https://doi.org/10.1159/aha/abkag014","url":null,"abstract":"<p><p>Background Revumenib is a first-in-class oral inhibitor of the menin-KMT2A protein-protein interaction, approved by the United States Food and Drug Administration in November 2024 for relapsed or refractory acute leukemia with a KMT2A translocation and in October 2025 for relapsed or refractory acute myeloid leukemia with a susceptible NPM1 mutation. The registrational programme identified differentiation syndrome (and QTc-interval prolongation as adverse events of special interest. The post-marketing adverse-event experience has not been systematically characterized. Methods A retrospective disproportionality analysis of the FDA Adverse Event Reporting System (FAERS, 14,104,743 reports) was performed, restricted to reports in which revumenib was named as a primary or secondary suspect product (n = 283). Frequentist (proportional reporting ratio with Pearson χ²; reporting odds ratio with 95% confidence interval) and Bayesian (information component with lower 2.5% bound; empirical Bayes geometric mean with lower 5% bound) metrics were calculated for every adverse event reported in association with the drug. A signal required more than three reports together with concurrent fulfilment of all four disproportionality criteria. Results Twenty-eight adverse events were evaluated; nineteen met the signal definition. Differentiation syndrome produced the strongest disproportionality (EBGM 15.38, EBGM₀₅ 9.17). Cytopenias of every lineage, electrocardiogram QT prolonged (EBGM₀₅ 3.67), and lower-magnitude constitutional and gastrointestinal events were also signalled. Nine events did not constitute signals, principally because of the case-count threshold. Conclusion Post-marketing reporting corroborates the safety profile established in AUGMENT-101 and identifies no novel toxicity category.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
José Manuel Moreno-Mirón, Alexa Moreno-Mirón, Guillermo José Ruiz-Argüelles, Robert Peter Gale
{"title":"<i>Helicobacter pylori</i> in Haematology: Contextualising Established and Emerging Associations.","authors":"José Manuel Moreno-Mirón, Alexa Moreno-Mirón, Guillermo José Ruiz-Argüelles, Robert Peter Gale","doi":"10.1159/aha/abkag012","DOIUrl":"10.1159/aha/abkag012","url":null,"abstract":"","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149015214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Arjen Yousefi, Mark-David Levin, Peter E Westerweel
{"title":"The Prevalence and Clinical Impact of Bone Marrow Fibrosis in Chronic Myeloid Leukemia.","authors":"Arjen Yousefi, Mark-David Levin, Peter E Westerweel","doi":"10.1159/000553020","DOIUrl":"https://doi.org/10.1159/000553020","url":null,"abstract":"<p><strong>Introduction: </strong>Bone marrow fibrosis may be present at chronic myeloid leukemia (CML) diagnosis and has been historically associated with poorer treatment responses. Its prognostic value is unclear for clinical outcomes in the current tyrosine kinase inhibitor (TKI) era.</p><p><strong>Methods: </strong>We conducted a single-center retrospective study including patients with a bone marrow biopsy at diagnosis. Fibrosis was graded according to the WHO classification. We assessed the prevalence of bone marrow fibrosis at diagnosis and its association with later clinical outcomes: the achievement of MR4.0 (BCR::ABL1 ≤0.01% IS) and sustained treatment-free remission (TFR) at 12 months after TKI stop.</p><p><strong>Results: </strong>Among 50 CML patients, 56% had bone marrow fibrosis, mostly grade 1 (n = 23) and less often grade 2 (n = 5). Forty-one of the 50 patients (82%) achieved MR4.0. MR4.0 achievement was not associated with fibrosis status (p = 0.40). Twenty-seven of the 50 patients (54%) discontinued their TKI with available outcome data. Among the 27 patients who stopped, 21 (78%) had a molecular relapse, the occurrence of which was not associated with fibrosis status (p = 0.65).</p><p><strong>Conclusions: </strong>Low-grade bone marrow fibrosis is prevalent at CML diagnosis but is not associated with the achievement of MR4.0 or sustained TFR.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1-6"},"PeriodicalIF":2.8,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148987851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jannis Kountouras, Evangelos I Kazakos, Efthymia Vlachaki, Maria Tzitiridou-Chatzopoulou, Ilias Hourpouliadis, Georgia Lazaraki, Christos Zavos, Maria Touloumtzi, Elisavet Vardaka
{"title":"Impact of <i>Helicobacter pylori</i> Infection on Severe Haematological Disorders.","authors":"Jannis Kountouras, Evangelos I Kazakos, Efthymia Vlachaki, Maria Tzitiridou-Chatzopoulou, Ilias Hourpouliadis, Georgia Lazaraki, Christos Zavos, Maria Touloumtzi, Elisavet Vardaka","doi":"10.1159/aha/abkag011","DOIUrl":"10.1159/aha/abkag011","url":null,"abstract":"","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148954610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"T-Cell Leukemia Cell Line Harboring Previously Undescribed CBFB::MYL11 Fusion Exhibits a Genome Profile Implicating Cytoskeletal Abnormality.","authors":"Tetsuko Kobayashi, Satsuki Matsushima, Hiroaki Ohnishi","doi":"10.1159/aha/abkag013","DOIUrl":"10.1159/aha/abkag013","url":null,"abstract":"<p><strong>Introduction: </strong>Gene fusions involving core binding factors (CBFs), such as CBFB::MYH11, are major contributing factors to leukemia development. The pathogenic mechanism is believed to lie in abnormalities in CBF, however, myosin, the fusion partner, has received little attention. In a preliminary analysis, we identified a previously undescribed fusion transcript, CBFB::MYL11, in RNA-sequencing data from the T-cell leukemia cell line HPB-ALL. We hypothesized that leukemia cells harboring CBFB::MYH11 or CBFB::MYL11 may share a common pathological mechanism involving myosin fusion.</p><p><strong>Methods: </strong>Fluorescence in situ hybridization was performed to analyze the structure of CBFB::MYL11 and Western blotting was performed to verify the fusion protein in HPB-ALL. Differentially expressed gene and gene ontology (GO) analyses were performed on ME-1 harboring CBFB::MYH11 and HPB-ALL to investigate characteristics of gene expression and molecular function.</p><p><strong>Results: </strong>In situ amplification of MYL11 and co-amplification of CBFB and MYL11 on a marker chromosome were observed. Elevated MYH11 and MYL11 expression and significant upregulation of genes related to the cytoskeleton were observed in the ME-1 and HPB-ALL cell lines. Bands consistent with the CBFB::MYL11 fusion protein were observed using Western blotting.</p><p><strong>Conclusion: </strong>This study underscores the pathological significance of cytoskeletal abnormalities in leukemia with CBFB/myosin fusion and provides a foundation for further investigation into their molecular mechanisms.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"1"},"PeriodicalIF":2.8,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148943861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}