International journal of laboratory hematology最新文献

{"title":"Focussing on CALR Variants.","authors":"Stephen E Langabeer","doi":"10.1111/ijlh.70197","DOIUrl":"https://doi.org/10.1111/ijlh.70197","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148803617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"mi-RNA-mRNA Alterations in Sorted T-Cells of Acquired Aplastic Anemia: Validating the Observations of a Pilot Study.","authors":"Ghazala Sabereen, Ruchi Gupta, Manish Kumar Singh, Kusum Gupta, Khaliqur Rahman, Chandra Prakash Chaturvedi, Dinesh Chandra, Rajesh Kashyap","doi":"10.1111/ijlh.70224","DOIUrl":"https://doi.org/10.1111/ijlh.70224","url":null,"abstract":"<p><strong>Introduction: </strong>An altered T-cell repertoire with aberrant immune activation is central to the pathogenesis of acquired aplastic anemia (aAA), and miRNAs are known to orchestrate T-cell activation; their relationship is, however, incompletely explored in aAA. The study aimed to validate specific miRNA-mRNA pairs involved in aberrant T-cell activation, differentiation, and cytokine levels in aAA.</p><p><strong>Methods: </strong>This was a prospective case-control study of 30 newly diagnosed patients with aAA and 10 healthy controls. The alterations in the expression of seven miRNAs were evaluated in the sorted T-cells isolated from the PB-MNCs. qRT-PCR was used to evaluate the miRNA expression, and fold change was calculated by the 2^ΔΔCt method. Target genes of the deregulated miRNAs were assessed by qRT-PCR. Cytokine profiling was carried out by cytokine bead array and qRT-PCR.</p><p><strong>Results: </strong>All seven miRNAs were differentially expressed in aAA, miR-155 (FC: 3.71) and miR-146b (fold change (FC): 5.86) were upregulated, while miR-126 (FC: 0.305), miR-181c (FC: 0.343), miR-16 (FC: 0.351), miR-326 (FC: 0.219), and miR-17 (FC: 0.38) were downregulated. These alterations correlated with disease severity. Target analysis showed increased expression of transcription factors promoting Th1/Th17 polarization and signaling molecules (PIK3R2, SOCS-1), with reduced expression of FOXP3, IRAK-1, TRAF-6, STAT-1, IFNGR, ETS-1, and PTEN. The miRNA-mRNA alterations in enriched T-cells mirrored those in PB-MNCs except for miR-17. Plasma levels of IL-2, IL-4, IL-6, and IL-10 (p = 0.069) were significantly elevated in aAA.</p><p><strong>Conclusion: </strong>This study confirms the differential expression of miRNAs in aAA and their possible role in maintaining the aberrant T-cell repertoire in aAA. In vitro studies utilizing miRNA knockdown/miR-mimics may uncover newer therapeutic targets in aAA.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148766606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Thrombin Generation in Pediatric Patients on Extracorporeal Life Support: Impact of Bivalirudin and Other Anticoagulants.","authors":"Vadim Kostousov, Karen Bruzdoski, Amir Navaei, Jun Teruya","doi":"10.1111/ijlh.70223","DOIUrl":"https://doi.org/10.1111/ijlh.70223","url":null,"abstract":"<p><strong>Introduction: </strong>Bivalirudin is an alternative anticoagulant to heparin and is widely used in pediatric extracorporeal life support (ECLS). Its activity is monitored using activated partial thromboplastin time (aPTT) and/or more specific tests such as plasma-diluted thrombin time (dTT). A new automated thrombin generation assay (TGA) has also shown promise in evaluating the hemostatic response in anticoagulated patients; however, its utility for monitoring bivalirudin or other anticoagulants in pediatrics remains unknown. We aimed to evaluate TGA in pediatric patients treated with bivalirudin and to compare it with that observed in patients receiving other commonly used anticoagulants.</p><p><strong>Methods: </strong>TGA, aPTT, aPTT with hepzyme, dTT, INR were measured in 30 specimens from 12 pediatric ECLS patients anticoagulated with bivalirudin. In addition, TGA, anti-Xa assay, and INR were measured in samples from children receiving enoxaparin (n = 22, 10 patients), heparin (n = 16, 8 patients), and warfarin (n = 19, 6 patients).</p><p><strong>Results: </strong>TGA lag ratio showed a strong correlation with bivalirudin concentration as measured by dTT and ROC analysis demonstrated that a Lag ratio > 2.0 predicted specimens within the therapeutic range for bivalirudin (sensitivity 0.88, specificity 0.67, accuracy 0.79). Interestingly, samples containing endogenous heparin-like substances exhibited paradoxically enhanced thrombin generation, despite having the highest aPTT values. Enoxaparin effect was associated with a reduction in thrombin peak and endogenous thrombin potential (ETP) suppression, while both heparin and warfarin led to a prolonged lag time, along with decreased peak and greater ETP suppression.</p><p><strong>Conclusion: </strong>TGA shows promise in evaluating bivalirudin anticoagulation and is capable of detecting anticoagulant activity across both subtherapeutic and therapeutic levels of other agents commonly used in pediatric patients.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CEBPA and DNMT3A Methylation and Expression Profiles Predict Survival in Acute Myeloid Leukemia.","authors":"Jairo Javier Jattin Balcázar","doi":"10.1111/ijlh.70225","DOIUrl":"https://doi.org/10.1111/ijlh.70225","url":null,"abstract":"<p><strong>Introduction: </strong>Acute myeloid leukemia (AML) is a genetically heterogeneous malignancy with variable clinical outcomes. Epigenetic alterations, particularly DNA methylation, have emerged as key modulators of gene expression and disease progression. This study investigates the prognostic relevance of methylation and expression profiles of CEBPA and DNMT3A in AML.</p><p><strong>Methods: </strong>A cohort of adult AML patients from the TCGA-LAML dataset was analyzed for gene expression and methylation profiles across seven AML-associated genes. Survival associations were evaluated using Kaplan-Meier curves and Cox proportional hazards models. An initial panel of seven AML-associated genes (CEBPA, DNMT3A, HDAC1, IDH1, IDH2, NPM1, and RUNX1) was screened for prognostic relevance using matched expression and methylation data; genes with significant survival associations were retained for model construction. Patients were stratified into low, intermediate, and high-risk groups based on this score.</p><p><strong>Results: </strong>Significant survival associations were observed for DNMT3A expression (p = 0.0062) and CEBPA methylation (p = 0.0074). Of the seven candidates, only DNMT3A expression and CEBPA methylation demonstrated independent prognostic value and were integrated into the final composite score. The composite score yielded strong survival separation across risk groups (p = 0.0033). In the final multivariate Cox model (n = 158), CEBPA methylation and DNMT3A expression remained independently predictive of overall survival.</p><p><strong>Conclusion: </strong>Methylation and expression profiles of CEBPA and DNMT3A could be integrated into a composite molecular score to complement conventional genetic and cytogenetic classifications to stratify survival risk in AML; however, further studies with established clinical risk systems are required.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148765963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exceptional Clonal Activation of the RAS Signaling Pathway During MDS Progression.","authors":"Mohammad Amir, Guy Froyen, Otto Soepenberg, Brigitte Maes, Sander De Bruyne","doi":"10.1111/ijlh.70221","DOIUrl":"10.1111/ijlh.70221","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148721956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Utility of Complete Blood Count Indices in Ferritin-Defined Microcytosis Among United States Women Aged 18-49 Years.","authors":"Jinxiao Hou, Xiaodong Shang, Hengwei Zhang, Dachuan Fan","doi":"10.1111/ijlh.70219","DOIUrl":"10.1111/ijlh.70219","url":null,"abstract":"<p><strong>Introduction: </strong>Complete blood count (CBC) discrimination indices are widely used as low-cost triage tools for microcytosis, but their diagnostic utility in population-based samples with ferritin-defined iron status is uncertain. We evaluated whether commonly used indices distinguish ferritin-defined iron-deficient from noniron-deficient microcytosis among women aged 18-49 years.</p><p><strong>Methods: </strong>We analyzed the National Health and Nutrition Examination Survey (NHANES) 2015-2016, 2017-2018, and August 2021-August 2023 data among nonpregnant women aged 18-49 years with CBC, serum ferritin, and survey design variables. Among microcytic (MCV < 80 fL) women, iron-deficient microcytosis was defined as ferritin < 15 ng/mL and noniron-deficient microcytosis as ferritin ≥ 15 ng/mL. Mentzer, England-Fraser, Srivastava, and red cell distribution width (RDW) indices were evaluated at conventional cutoffs. Sensitivity analyses used ferritin < 30 ng/mL and C-reactive protein (CRP) restrictions of ≤ 5 and ≤ 3 mg/L. All estimates were survey-weighted.</p><p><strong>Results: </strong>Among 3991 women, 507 had microcytosis. Ferritin-defined noniron-deficient microcytosis comprised 40.8% (95% CI, 35.5-46.2) and remained 37.0% and 33.6% after CRP restrictions of ≤ 5 and ≤ 3 mg/L. With ferritin ≥ 30 ng/mL, the corresponding proportions were 26.5%, 22.6%, and 20.2%. All four indices showed high sensitivity (92.9%-97.6%) but poor specificity (6.7%-35.3%). RDW had the highest specificity but still misclassified most noniron-deficient cases.</p><p><strong>Conclusions: </strong>Classic CBC indices had limited utility as standalone triage tools for ferritin-defined microcytosis. Ferritin-based assessment, interpreted in the relevant clinical and inflammatory context, should remain central. Persistent microcytosis without evidence of reduced iron stores should prompt diagnostic reconsideration and, when appropriate, hemoglobinopathy-aware evaluation.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148727422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Cytomorphologic Features of Intravascular Large B-Cell Lymphoma on Bone Marrow Smears: An Early Diagnostic Clue.","authors":"Fang Chen, Fang Long, Ting Li, Yingdong Xu","doi":"10.1111/ijlh.70222","DOIUrl":"https://doi.org/10.1111/ijlh.70222","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148714875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unsupervised Global CBC/RUO/CPD Phenotyping Identifies Haematological Clusters Enriched for Thrombocytopenia Severity and Mechanisms.","authors":"Mohammad A Altememi, Emmanuel J Favaloro, Md Zahidul Islam, Sara Ng, Danny Hsu, Abishek B Santhakumar","doi":"10.1111/ijlh.70217","DOIUrl":"https://doi.org/10.1111/ijlh.70217","url":null,"abstract":"<p><strong>Introduction: </strong>Thrombocytopenia has heterogeneous mechanisms, including peripheral destruction, consumption, and reduced marrow production. This study developed an unsupervised global complete blood count/research-use-only/cell population data (CBC/RUO/CPD) phenotyping model and evaluated post hoc whether thrombocytopenia severity and clinically adjudicated mechanisms were enriched within the resulting clusters.</p><p><strong>Methods: </strong>Retrospective haematology analyser data from 254 289 unique specimens were analysed after cleaning 537 279 extracted rows. Exploratory missingness filtering retained 123 features and 173 851 complete-case specimens. The final model used a refined 41-feature CBC_EXTENDED complete-case dataset containing 241 591 specimens. Features were standardised, reduced using principal component analysis to 20 components explaining 92.94% of cumulative variance, and clustered using k-means. Thrombocytopenia thresholds and electronic health record (EHR) adjudicated primary mechanism labels were evaluated post hoc.</p><p><strong>Results: </strong>The final global k-means model (k = 4) generated four broad haematological clusters comprising 14%-37% of specimens. Internal separation was modest but interpretable, with sampled silhouette 0.10, Davies-Bouldin 2.21, and Calinski-Harabasz 6536.92 in the fixed 60 000 specimen model comparison analysis. Cluster 3 showed progressive post hoc enrichment with thrombocytopenia severity, accounting for approximately 46%, 60%, and 71% of specimens with platelet counts < 150, < 100, and < 50 × 10⁹/L, respectively. In 225 clinically annotated thrombocytopenic specimens, k-means k = 4 showed limited but non-random concordance with adjudicated mechanisms (purity 0.59; adjusted Rand index 0.14; normalised mutual information 0.18).</p><p><strong>Conclusion: </strong>Unsupervised global CBC/RUO/CPD clustering identified broad laboratory phenotypes with post hoc enrichment for thrombocytopenia severity and adjudicated mechanisms. These findings support underutilised analyser-derived parameters for laboratory phenotyping and hypothesis generation, not standalone diagnosis.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148709165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laboratory Concordance and Prognostic Impact of 10-Color Flow Cytometry and Next-Generation Sequencing-Based Immunoglobulin Gene Assay for Measurable Residual Disease Monitoring in Adult B-Cell Acute Lymphoblastic Leukemia: A Multicenter Study From Thai Acute Leukemia Working Group (TALWG).","authors":"Chantiya Chanswangphuwana, Wasithep Limvorapitak, Sirorat Kobbuaklee, Patsita Kansuwan, Kitsada Wudhikarn, Ponlapat Rojnuckarin, Weerapat Owattanapanich, Thanawat Rattanathammethee, Adisak Tantiworawit, Panachai Silpsamrit, Kannadit Prayongratana, Thanakrit Piyajaroenkij, Dusit Jit-Ueakul, Chantana Polprasert","doi":"10.1111/ijlh.70216","DOIUrl":"https://doi.org/10.1111/ijlh.70216","url":null,"abstract":"<p><strong>Aims: </strong>Measurable residual disease (MRD) is a key prognostic marker for patient survival. This study evaluated concordance between 10-color flow cytometry and next-generation sequencing (NGS)-based immunoglobulin heavy chain (IGH) gene assays for MRD detection and to assess prognostic significance in adult B-cell acute lymphoblastic leukemia (B-ALL).</p><p><strong>Methods: </strong>This multicenter prospective study enrolled 51 patients with newly diagnosed B-ALL. Bone marrow samples were obtained at diagnosis, post-induction (1 month), and post-early consolidation (3 months). Flow cytometry and NGS-IGH were performed at three timepoints to assess MRD B-ALL.</p><p><strong>Results: </strong>Patients were classified as high risk according to white blood cell count and cytogenetic features in 37.3% and 64.7% of patients, respectively. Treatment protocols included pediatric-inspired regimens (41.2%), adult-ALL protocols (52.9%), and low-intensity chemotherapy. All 16 Philadelphia chromosome-positive patients received tyrosine kinase inhibitors. Twenty patients underwent allogeneic hematopoietic cell transplantation (HCT) in first complete remission (CR). Median relapse-free survival (RFS) and overall survival were 19 and 39 months, respectively. MRD negativity at 3 months by either method correlated with significantly superior RFS. Allogeneic HCT also conferred RFS benefit. MRD positive patients without HCT had the worst RFS. Flow cytometry MRD positivity at 3 months independently predicted inferior RFS (HR 3.81; 95% CI 1.01-14.43). The overall concordance between flow cytometry and NGS was 80.7%.</p><p><strong>Conclusion: </strong>MRD positivity at 3 months post-treatment strongly predicted relapse, supporting its use to guide therapeutic modifications of B-ALL. Apart from NGS-based IGH clonality assays, 10-color flow cytometry offers an alternative in resource-limited settings.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148703177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Myeloid Leukemia With Extreme Hypereosinophilia Without Canonical Genetic Drivers: A Diagnostic Challenge.","authors":"Clara Assadi-Gazvini, Camille Bailleul, Pierre Arnautou, Carine Hejl, Quentin Amiot","doi":"10.1111/ijlh.70220","DOIUrl":"https://doi.org/10.1111/ijlh.70220","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148703180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}