International journal of laboratory hematology最新文献

{"title":"Mast Cell Blast Crisis in a Patient of Chronic Myeloid Leukemia With Concurrent BCR::ABL1 and RUNX1::RUNX1T1 Rearrangement or Should We Call It Myelomastocytic Leukemia? A Diagnostic Challenge With Nomenclature Dilemma.","authors":"Aastha Gupta, Karthika Rudrakumar, Surbhi Singh, Shrinidhy Nathany, Rahul Bhargava","doi":"10.1111/ijlh.14465","DOIUrl":"https://doi.org/10.1111/ijlh.14465","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143660130","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":"Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing.","authors":"Min-Seung Park, Boram Kim, Hyun-Young Kim, Chul Won Jung, Jun Ho Jang, Hee-Jin Kim","doi":"10.1111/ijlh.14458","DOIUrl":"https://doi.org/10.1111/ijlh.14458","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143660185","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":"Towards Sensitive and Cost-Effective Chimerism Assays Using FABCASE: A Fast Approach for Estimating Assay Informativity.","authors":"Matthijs Vynck","doi":"10.1111/ijlh.14460","DOIUrl":"https://doi.org/10.1111/ijlh.14460","url":null,"abstract":"<p><strong>Background: </strong>Chimerism monitoring is part of the standard of care for patients following an allogeneic hematopoietic stem cell transplantation. There has recently been a move towards sensitive, high-throughput (next-generation) sequencing analysis of biallelic markers for this purpose. Determining the number and properties of the markers to include in an assay to achieve reliable yet cost-effective chimerism quantification is an underexposed but critical part of chimerism assay development, optimization, and validation.</p><p><strong>Methods: </strong>We develop FABCASE (Fast and Accurate Biallelic Chimerism Assay Size Estimation), an approach to estimate the required number of markers to screen to obtain a given informativity rate. We explore several practical examples that illustrate the diverse applications of FABCASE beyond calculating the required number of markers to screen.</p><p><strong>Results: </strong>FABCASE offers a more than four orders of magnitude speed improvement compared to a previously introduced Monte Carlo simulation approach, unlocking extensive in silico scenario analyses. We find that minor allele frequency (MAF) and informative rate estimation based on small sample series (tens) are reasonably accurate. MAFs may vary drastically between populations, and the number of required markers to attain a preset informativity rate is inflated (here, +28%) when not optimized. Marker subset selection from a pool of candidate markers is little impacted by small-to-medium MAF differences (0%-20% MAF). Prioritizing markers with uniform amplification efficiency reduces sequencing depth requirements and improves cost-effectiveness. A web graphical user interface facilitating marker set informativity evaluation is available at https://mvynck.shinyapps.io/FABCASE.</p><p><strong>Conclusion: </strong>FABCASE facilitates the design, refinement, and implementation of sensitive and cost-effective chimerism assays. Due attention should be given to an assay's marker MAFs, sensitivities, and amplification efficiencies.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639859","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":"An Abnormal Scattergram of Peripheral Blood Leukocytes Indicative of the Presence of Monoclonal IgM Immunoglobulins.","authors":"Michela Pelloso, Paola Galozzi, Francesca Tosato, Paolo Zaupa, Sara Altinier, Giulia Musso, Daniela Basso, Martina Montagnana","doi":"10.1111/ijlh.14463","DOIUrl":"https://doi.org/10.1111/ijlh.14463","url":null,"abstract":"","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639950","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":"Chinese Patients With BCR::ABL1-Negative Myeloproliferative Neoplasms: Immunophenotype of Myeloid Monocytes.","authors":"Fengting Liang, Yangyang Zou, Liangmei Huang, Dongxiao Pang, JinbaoPang, Xuelan Liang","doi":"10.1111/ijlh.14461","DOIUrl":"https://doi.org/10.1111/ijlh.14461","url":null,"abstract":"<p><strong>Introduction: </strong>The main terms for typical BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF). Monocytes in MPN patients are involved in their inflammation and form an important part of the pathophysiology of MPN patients.</p><p><strong>Methods: </strong>We used flow cytometry to study the immunophenotype of bone marrow monocytes from MPN patients (N = 118) and to correlate it with clinical parameters (including genetics, pathology, blood counts, personal information).</p><p><strong>Results: </strong>The results showed that bone marrow monocyte cells from MPN patients expressed the inflammation-related marker CD16 at higher levels than healthy controls. Second, bone marrow monocytes from Overt-PMF patients expressed CD11b at higher levels than monocytes from ET patients. Finally, certain specific monocyte subpopulations in MPN patients correlated with their clinical parameters. For example, in patients with ET and PMF, CD64+ monocytes were positively correlated with WBC and LDH. In PMF patients, the proportion of bone marrow monocytes was positively correlated with the grade of myelofibrosis, and CD15+ monocytes positively correlated with WBC and IPSS scores.</p><p><strong>Conclusion: </strong>Our results provide insights into the immune microenvironment of MPNs based on immunophenotypic features and provide potential immune markers for MPNs occurrence and development.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639952","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":"Cold Stored Platelets: A Solution for Platelet Aggregation External Quality Assessment/Proficiency Testing.","authors":"Christopher Reilly-Stitt, Ian Jennings, Steve Kitchen, Michael Cahillane, Christine Saunders, Chloe George, Tom Scorer, Isobel D Walker","doi":"10.1111/ijlh.14445","DOIUrl":"https://doi.org/10.1111/ijlh.14445","url":null,"abstract":"<p><strong>Background: </strong>To achieve accreditation for ISO 15189, laboratories are required to either participate in EQA exercises or intra-laboratory comparisons to meet the standard. Light transmission aggregometry performed by laboratory scientists for the clinical investigation of possible platelet function defects is time dependent. Current EQA available audits the interpretation of platelet aggregation traces.</p><p><strong>Objectives: </strong>Could NEQAS BC provide external quality assessment (EQA) material to centres employing Light Transmission Aggregometry LTA for clinical investigation of platelet function? The use of fresh donor platelets could audit more of the analytical and post analytical aspects of light transmission aggregation than currently available.</p><p><strong>Methods: </strong>A pool of donor platelets was split into aliquots that were distributed to testing centres across England, Scotland and Wales for testing within a 72 h window. Participating centres employed their locally validated testing methods for LTA assays, for agonists including ADP; Arachidonic acid; Collagen; Epinephrine; Ristocetin; TRAP and U46619.</p><p><strong>Results: </strong>Five different aggregation platforms were used including: Chronolog 700; Helena Aggram; PAP-8; Stago TA-8V and Sysmex CN-series. Sample packs were tested through the 72 h window with most sites performing LTA on the EQA material on day one of the three.</p><p><strong>Conclusion: </strong>The % consensus of interpretations provided by participants for agonists including: ADP; Arachidonic acid; Collagen; Epinephrine and Ristocetin ranged from 94% to 100% indicating that the material is stable plus centres using different aggregometers returned the same clinical interpretations.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588604","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":"Analytical Validation of the High Concentrated Thrombin Time-To-Reptilase Time Ratio: A Proposed Assay for Monitoring Unfractionated Heparin in Patients With Low Fibrinogen Levels.","authors":"Pornnapa Police, Phichchapha Noikongdee, Tichayapa Phojanasenee, Wittawat Chantkran, Dollapak Apipongrat","doi":"10.1111/ijlh.14459","DOIUrl":"https://doi.org/10.1111/ijlh.14459","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to evaluate the analytical performance of the high-concentrated thrombin time-to-reptilase time (hcTT/RT) ratio as a novel assay to neutralize fibrinogen effects and improve accuracy in unfractionated heparin (UFH) monitoring and to validate its use in clinical samples with low fibrinogen levels.</p><p><strong>Methods: </strong>A total of 240 heparin-spiked plasma samples, prepared from 30 normal plasma samples with varying UFH concentrations, were analyzed. The hcTT/RT ratio's correlation with anti-FXa activity and its sensitivity and specificity were compared with the hcTT assay. Additionally, 89 clinical samples from UFH-treated patients with low fibrinogen levels were analyzed to validate the assay in clinical settings.</p><p><strong>Results: </strong>Both hcTT and the hcTT/RT ratio demonstrated strong correlations with anti-FXa activity (R² = 0.76 and 0.75, respectively). The hcTT/RT ratio outperformed hcTT in detecting subtherapeutic UFH levels, achieving higher diagnostic accuracy (AUC: 0.99 vs. 0.98, p < 0.001), greater sensitivity (89.2% vs. 86.7%), and perfect specificity (100.0% vs. 98.3%), with comparable performance for supratherapeutic UFH levels. Notably, the hcTT/RT ratio remained unaffected by low fibrinogen concentrations. In the validation study, the hcTT/RT ratio showed a stronger correlation with anti-FXa activity than activated partial thromboplastin time and hcTT alone (R² = 0.72 vs. 0.63 and 0.72 vs. 0.67, respectively) and had no significant correlation with fibrinogen levels (Spearman's r = -0.01).</p><p><strong>Conclusions: </strong>The hcTT/RT ratio is a reliable assay for monitoring UFH, especially in patients with low fibrinogen levels. Further large-scale clinical studies are needed to evaluate its practical application in clinical settings.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588911","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":"ITGAM Upregulation in Acute Myeloid Leukemia Leads to Poor Prognosis Associated With Infiltration of Inhibitory Innate Immune Cells.","authors":"Chen-Chen Qin, Xiu-Zhen Tong, Chang Su, Zhen-Hai Zhou, Dong Zheng","doi":"10.1111/ijlh.14444","DOIUrl":"https://doi.org/10.1111/ijlh.14444","url":null,"abstract":"<p><strong>Background: </strong>Acute myeloid leukemia (AML) is a prevalent and potentially fatal hematologic malignancy with limited improvements in survival rates over the past few decades. ITGAM, encoding CD11b, is a significant integrin component in leukocytes, involved in various biological processes. However, its role in AML prognosis and immune cell infiltration remains poorly understood.</p><p><strong>Methods: </strong>This study investigated the prognostic significance and potential function of ITGAM in AML using comprehensive bioinformatic analyses.</p><p><strong>Results: </strong>ITGAM expression was markedly upregulated in AML patients, correlating with advanced age (> 60 years), French-American-British (FAB) classification subtypes M4 and M5, and intermediate or poor cytogenetic risk. Gene enrichment analysis revealed that ITGAM was involved in immune system regulation and was positively associated with the infiltration of neutrophils, immature dendritic cells, and macrophages in AML. Notably, the expression of ITGAM was linked to increased infiltration of immunosuppressive subsets of these innate immune cells, which may partially explain its association with a poorer prognosis.</p><p><strong>Conclusion: </strong>These findings suggest that ITGAM could serve as a valuable prognostic biomarker in AML, reflecting an adverse prognosis associated with enhanced infiltration of immunosuppressive innate immune cells.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588681","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 the Use of Available Resources for Diagnosing Diffuse Large B-Cell Lymphoma in an HIV-Prevalent Setting.","authors":"Gaone Abigail Moalosi, Jenifer Vaughan, Elise Schapkaitz","doi":"10.1111/ijlh.14453","DOIUrl":"https://doi.org/10.1111/ijlh.14453","url":null,"abstract":"<p><strong>Background: </strong>Limited availability of diagnostic tests in low-resource settings hampers the diagnosis and classification of diffuse large B-cell lymphoma (DLBCL). A study was performed to assess the use of resources for classifying DLBCL in South Africa (SA) using 'essential' and 'desirable' investigations as per published guidelines.</p><p><strong>Methods: </strong>A record review was performed of 74 patients newly diagnosed with DLBCL by tissue biopsy at the National Health Laboratory Service (NHLS) in Johannesburg between 1 January 2019 and 31 December 2022. The immunohistochemistry (IHC) and/or molecular work-up performed for the primary diagnosis of DLBCL and the associated costs were recorded.</p><p><strong>Results: </strong>The primary diagnosis of DLBCL was based on 34 (45.9%) nodal and 40 (54.1%) extra-nodal biopsy sections. Overall, 60 (81.1%) were from participants living with human immunodeficiency virus (HIV) infection. 'Essential' IHC for CD3, CD10, CD20, Ki-67, BCL-2, BCL-6, MUM-1 and 'desirable' fluorescence in situ hybridisation (FISH) for MYC gene rearrangement were most requested for diagnosis. 'Essential' IHC for c-MYC was not performed because of non-availability of the testing. The 'essential' IHC was diagnostic in 97.3%. 'Desirable' FISH for MYC rearrangement was done in 56 (79.7%) cases, with additional FISH for BCL2 and BCL6 rearrangement performed in cases positive for MYC rearrangement. The average cost of diagnosis at the NHLS was half that of the recommended diagnostic testing.</p><p><strong>Conclusion: </strong>The advocated 'essential' investigations, in addition to 'desirable' tests where necessary, enabled the accurate and cost-effective diagnosis of DLBCL in SA and are recommended for other parts of the world with limited resources.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574935","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":"The Diagnostic Performance of a Sysmex XN-31 Automated Malaria Analyzer vs. Expert Microscopy.","authors":"S Onsongo, K Otieno, L Mathenge, E Makotsi, G Kariuki, V Ngetich, G Muriithi, A T Harrison, T Odawo, S Kariuki","doi":"10.1111/ijlh.14456","DOIUrl":"https://doi.org/10.1111/ijlh.14456","url":null,"abstract":"<p><strong>Introduction: </strong>Malaria is a common and life-threatening infection. Malaria diagnosis needs to be fast and reliable. Although malaria microscopy is currently the gold standard, it is laborious, requires extensive training, and relies heavily on the proficiency of microscopists. Though malaria rapid tests are widely used, they show poor sensitivity at low parasitemia levels, are affected by gene deletions, and offer only qualitative results. There is a need to explore new techniques for the diagnosis of malaria.</p><p><strong>Methodology: </strong>A single-center, cross-sectional study evaluated the diagnostic performance of the Sysmex XN-31 automated analyzer for detecting malaria parasites compared to expert microscopy. The primary objective was to assess the XN-31's sensitivity, specificity, and ability to quantify malaria parasites relative to microscopy, the current gold standard. Blood samples from 310 adult patients undergoing routine malaria testing in a hospital setting were used. This included 118 confirmed malaria-positive cases. The Sysmex XN-31 results were compared to blinded expert microscopy on the same samples. Dried blood spot samples were collected for any discrepancies and resolved using molecular testing.</p><p><strong>Results: </strong>This study analyzed 310 patient samples for malaria using both microscopy and the XN-31 analyzer. Microscopy identified 122 positive samples (39%), with P. falciparum being the most prevalent species. Expert malaria microscopy demonstrated a sensitivity of 97.6% and a specificity of 100%. The XN-31 analyzer showed a sensitivity of 100% and a specificity of 99.46%. In malaria speciation, the XN-31 correctly flagged P. falciparum in 116 out of 117 cases (99.1%) among 125 positive cases. Additionally, five nonfalciparum malaria cases (Plasmodium malariae-four cases and Plasmodium ovale-one case) were accurately flagged as 'Malaria (Others).' However, five P. falciparum cases were incorrectly flagged as 'Malaria (Others),' highlighting limitations in malaria speciation by the analyzer. Statistical analysis revealed a strong correlation (Spearman coefficient of 0.8) between the parasite density measured via microscopy and the XN-31. Passing-Bablok regression indicated a strong linear relationship between these two methods.</p><p><strong>Conclusion: </strong>The Sysmex XN-31 analyzer provides a quick and accurate method for the diagnosis of malaria. It detects, quantifies, and speciates plasmodium infections in less than 1 minute. Our study showed that the analyzer shows high sensitivity and specificity comparable to those of expert microscopy in detecting Plasmodium species, making it a promising alternative to current diagnostic methods. By overcoming the numerous limitations of existing tests, the XN-31 proves to be well-suited for malaria testing, especially in malaria-endemic regions.</p>","PeriodicalId":94050,"journal":{"name":"International journal of laboratory hematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143560456","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}