International journal of laboratory hematology最新文献

{"title":"Immunoglobulin Isotype Profiling of Anti-Factor H Autoantibodies in Complement-Mediated Diseases.","authors":"Sandrine Thouzeau-Benghezal, Clémence Merlen, Ambre Bulteau, Anne-Laure Lapeyraque, Georges-Etienne Rivard, Stéphan Troyanov, Alexandra Cambier, Arnaud Bonnefoy","doi":"10.1111/ijlh.70137","DOIUrl":"10.1111/ijlh.70137","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1250-1253"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147824865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of the Expression Levels of miR-383, miR-381, and miR-141 miRNAs as Diagnostic Biomarkers in Acute Myeloid Leukemia.","authors":"Mayyadah Ali Ahmed Al-Gburi, Reza Safaralizadeh, Ali Rajabi, Mohammadali Hosseinpour Feizi","doi":"10.1111/ijlh.70144","DOIUrl":"10.1111/ijlh.70144","url":null,"abstract":"<p><strong>Background: </strong>Acute myeloid leukemia (AML) is a clonal illness that is different in both medical and biological traits. Nonetheless, the genetic basis of this malignancy remains inadequately elucidated. MicroRNAs (miRNAs) are small noncoding RNAs that modify the expression of target mRNAs at both transcriptional and translational levels. In the past decade, miRNAs have evolved a unique mechanism in gene regulation, exhibiting varying expression throughout myeloid differentiation. This investigation examines the serum levels of miR-383, miR-381, and miR-141 in AML and evaluates their diagnostic potential.</p><p><strong>Methods: </strong>Serum samples from 110 AML patients and 110 normal individuals were evaluated using qRT-PCR. Levels of expression were measured via the 2^-ΔCt technique and normalized by U6. Diagnostic performance was assessed by the ROC curve analysis.</p><p><strong>Results: </strong>MiR-383 was significantly upregulated (p = 0.0001), while miR-381 and miR-141 were downregulated (p = 0.0002 and p = 0.0004, respectively) in AML patients. In addition, a considerable correlation was demonstrated between the expression levels of miR-381 and subtype (p = 0.02). In addition, the expression levels of miR-141 and miR-381 were positively correlated in AML patients (r = 0.99, p ≤ 0.0001). The ROC analysis revealed strong potential of miR-383 (AUC 0.87, 95% CI: 0.82-0.91), miR-381 (AUC 0.71, 95% CI: 064-0.78), and miR-141 (AUC 0.84, 95% CI: 0.79-0.89) as promising diagnostic biomarkers.</p><p><strong>Conclusion: </strong>These miRNAs display distinct serum expression levels in AML, with miR-383, miR-381, and miR-141 demonstrating potential as diagnostic biomarkers, necessitating additional confirmation.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1086-1093"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147876960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence Based High Resolution Melting Analysis for Comprehensive Calreticulin Mutation Screening and Novel Variant Detection in Myeloproliferative Neoplasms.","authors":"Qingyun Zhang, Xiaotong Ma, Quanli Wu, Yusi Duan, Can Yang, Xuemei Tang, Chun Xu, Ming Guan, Zhiyuan Wu","doi":"10.1111/ijlh.70150","DOIUrl":"10.1111/ijlh.70150","url":null,"abstract":"<p><strong>Introduction: </strong>Current CALR mutation screening in myeloproliferative neoplasms (MPNs) faces a trade-off between coverage and cost: allele-specific qPCR and fragment analysis are inexpensive but cover only part of the variant landscape, while sequencing costs $300-500 per sample with 3-5 day turnaround. High-resolution melting (HRM) offers both but suffers from subjective interpretation. We developed HRM-CALR-AI, an automated CALR screening platform.</p><p><strong>Methods: </strong>HRM-CALR-AI was developed on 2667 samples and combines YOLOv8s-cls deep learning with CatBoost meta-classifier for open-set recognition of untrained mutations. Validation included three independent laboratories, 188 consecutive JAK2-negative MPN patients, and a head-to-head comparison with capillary electrophoresis fragment analysis.</p><p><strong>Results: </strong>HRM-CALR-AI processed 96 samples in 90-min at < $10 per test, with limits of detection of 6.25% (CALR-1) and 12.5% (CALR-2) variant allele frequency. On a 480-sample held-out set, it achieved 93.9% accuracy (95% CI: 91.7-95.8), AUC of 0.996 (95% CI: 0.993-0.998), and 89.1% (57/64) recognition of untrained rare variants. Clinical screening identified 160 wild-type (85.1%), 15 CALR-1 (8.0%), nine CALR-2 (4.8%), and four rare variants (2.1%), including a previously unreported variant (c.1145_1158delinsTCCT) classified as CALR-2-like. Multicenter accuracy was 98.1% (ICC 0.868). Against fragment analysis, HRM-CALR-AI showed equivalent detection of length-altering variants (kappa = 0.933) and additionally covered nonlength-altering variants that are invisible to size-based separation.</p><p><strong>Conclusions: </strong>HRM-CALR-AI combines open-set recognition with low-cost HRM to detect rare and unreported variants at ~50-fold lower cost and same-day turnaround. Multicenter reproducibility and benchmarking against fragment analysis support implementation as a frontline screening tool where NGS access is limited.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1113-1122"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147977482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monitoring of Patients on Efanesoctocog Alfa Using SynthASil.","authors":"Mitja L Heinemann, Kathleen Biemann, Tristan Klöter, Maria Weise, Julia Lutéran, Dirk Wittekind, Lars Fischer, Ute Scholz, Christian Pfrepper","doi":"10.1111/ijlh.70108","DOIUrl":"10.1111/ijlh.70108","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1224-1227"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147648070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Critical Appraisal of Personalized Reference Intervals.","authors":"Marion Janssen, Thibault Lavalleye, Mélanie Closset, Emilie Catry, Valéry Daubie, François Mullier, Gautier Detry","doi":"10.1111/ijlh.70113","DOIUrl":"10.1111/ijlh.70113","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1221-1223"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147641095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mixed Autoimmune Hemolytic Anemia Unmasked by Cold-Triggered Relapse Following an Initial Diagnosis of Warm Autoimmune Hemolytic Anemia.","authors":"Naru Tomigaki, Seiji Kakiuchi, Akimasa Sakamoto, Isamu Harima, Hiroaki Akiyama, Ryotaro Niwa, Yoko Kozuki, Yoshiharu Miyata, Sou Tanaka, Hiroyuki Tsuji, Nobuko Iwata","doi":"10.1111/ijlh.70143","DOIUrl":"10.1111/ijlh.70143","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1254-1257"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147847865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trypanosoma-Like Artifacts in Peripheral Blood Smears: A Training Shortfall in Non-Endemic Areas.","authors":"Vishal Tayade, Gyanendra Singh, Richa Bhartiya","doi":"10.1111/ijlh.70109","DOIUrl":"10.1111/ijlh.70109","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1228-1230"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147655318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of Flow Cytometric Enumeration of Circulating hMICL (CD371) Positive Leukemic Stem Cells in Diagnosis and Prognostication of BCR::ABL1-Negative Myeloproliferative Neoplasms.","authors":"Gurleen Oberoi, Rishi Dhawan, Jasmita Dass, Neha Ganju, Ganesh Viswanathan, Suman Lata, Mukul Agarwal, Pradeep Kumar Kumar, Tulika Seth, Manoranjan Mahapatra, Renu Saxena","doi":"10.1111/ijlh.70128","DOIUrl":"10.1111/ijlh.70128","url":null,"abstract":"<p><strong>Background: </strong>BCR-ABL1-negative myeloproliferative neoplasms (MPNs) often exhibit overlapping clinical and morphological features, making accurate subcategorization challenging. The h-MICL (CD371) antigen, selectively expressed on leukemic stem cells (LSCs) and absent on CD34⁺CD38^- cells in normal or regenerating marrow, represents a potential diagnostic and prognostic marker.</p><p><strong>Objectives: </strong>This study aimed to evaluate the diagnostic utility of circulating CD34⁺CD38^-h-MICL⁺ cells in subtyping BCR-ABL1-negative MPNs and to assess their correlation with the Dynamic International Prognostic Scoring System (DIPSS) score. Additionally, to identify a cut-off value of CD34⁺CD38^-h-MICL⁺ cells that can effectively differentiate PMF.</p><p><strong>Methods: </strong>Fifty-four patients with BCR-ABL1-negative MPNs were prospectively enrolled at a tertiary care center in North India over 18 months. Peripheral blood was analyzed via flow cytometry to quantify CD34⁺, CD34⁺CD38⁺, CD34⁺CD38^-, and CD34⁺CD38^-h-MICL⁺ cell subsets.</p><p><strong>Results: </strong>A significant increase in circulating CD34⁺CD38^-h-MICL⁺ cells was observed in patients with overt MF (median 2.8%), prefibrotic MF (4.15%), and post-PV/ET MF (3%) compared to PV and ET (median 0%; p < 0.001). A threshold of ≥ 0.9% CD34⁺CD38^-h-MICL⁺ cells effectively identified MF cases with 88% sensitivity and 89% specificity. Moreover, a positive correlation was found between the percentage of CD34⁺CD38^-h-MICL⁺ cells and DIPSS score (ρ = 0.41, p = 0.036), with every 1.72% increase in this cell population corresponding to a 1-point rise in DIPSS score.</p><p><strong>Conclusion: </strong>Circulating CD34⁺CD38^-h-MICL⁺ cells represent a promising biomarker; their quantification may aid in subclassification, particularly in distinguishing prefibrotic MF from ET, and may serve as a potential target for future therapeutic strategies. Further validation in larger cohorts is warranted.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1069-1077"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147824831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia.","authors":"Ayse Gul Bayrak Tokac, Aynur Aday, Simge Erdem, Gulcin Bagatir, Burak Don, Ozden Ozcan, Akif Selim Yavuz, Sevgi Kalayoglu Besisik, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk","doi":"10.1111/ijlh.70146","DOIUrl":"10.1111/ijlh.70146","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity.</p><p><strong>Methods: </strong>In this retrospective study, variant Ph translocations identified by conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) were systematically classified among 639 patients diagnosed with CML. A total of 35 patients with variant Ph translocations were included in the analysis. Molecular follow-up data, when available, were assessed using RT-qPCR analyses in a subset of patients.</p><p><strong>Results: </strong>Chromosome analysis revealed 2 simple and 33 complex variant Ph translocations. FISH analysis, performed in 20 patients, identified deletions involving BCR, ABL1, or both in a limited number of cases. Additional chromosomal abnormalities and secondary translocations accompanied variant Ph translocations in four patients. The partner chromosomes involved in variant Ph translocations showed marked diversity, involving multiple chromosomal loci.</p><p><strong>Conclusion: </strong>Variant Philadelphia chromosome translocations in CML exhibit substantial cytogenetic diversity, reflecting the complexity of their underlying genomic architecture. The rarity and heterogeneity of these rearrangements complicate their classification and interpretation in routine diagnostic practice. Descriptive reporting of variant Ph translocations may contribute to a better understanding of their diagnostic complexity and support more accurate cytogenetic interpretation in CML.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1103-1112"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147978027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficiency of Automated and Manual Plasma Cell Immunoselection for FISH Analysis in Multiple Myeloma.","authors":"Helena Podgornik, Katarina Reberšek","doi":"10.1111/ijlh.70173","DOIUrl":"10.1111/ijlh.70173","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple myeloma (MM) is a heterogeneous plasma cell (PC) malignancy in both clinical presentation and genetic profile. Cytogenetic characterization, particularly by interphase fluorescence in situ hybridization (FISH), is critical for risk stratification and treatment decisions. FISH results depend on the PC infiltration rate in bone marrow (BM); therefore, CD138-positive immunoselection is required to overcome reduced FISH sensitivity due to low infiltration. We evaluated the performance of automated PC immunoselection compared to the manual method.</p><p><strong>Methods: </strong>We retrospectively analyzed data from 715 BM samples sent for routine FISH testing between 2019 and 2024. PCs were isolated manually (n = 351) or automatically (n = 364). BM infiltration was assessed by flow cytometry (FC) and/or cytomorphology. FISH analysis was performed using a primary panel with three DNA probes or an expanded panel with additional probes. Confirmed diagnoses were obtained from clinical records.</p><p><strong>Results: </strong>FISH was successfully performed in 81% of samples, with automated processing achieving a higher success rate (86% vs. 75%, p < 0.001). Automated processing provided higher PC yields, enabling testing with expanded probe sets. Chromosomal abnormalities were detected in more than 90% of confirmed MM cases, regardless of isolation method. PC infiltration strongly predicted FISH success, with infiltration of ≥ 3% corresponding to an 80% probability of successful FISH.</p><p><strong>Conclusions: </strong>Automated immunoselection improves PC yield, enabling broader FISH testing compared to manual processing. Information on PC infiltration obtained by cytomorphology or FC, which indicates sample quality, can support quality assessment in the cytogenetics laboratory.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":"1078-1085"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13555144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}