Annals of Laboratory Medicine最新文献

{"title":"Late-Onset Hereditary Spastic Paraplegia with a Novel <i>SPAST</i> Intronic Variant.","authors":"Kinam Park, Won Mo Koo, Jong Min Kim, Do-Hoon Kim","doi":"10.3343/alm.2026.0271","DOIUrl":"10.3343/alm.2026.0271","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"747-749"},"PeriodicalIF":4.4,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148787703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"White Blood Cell Counting in Severely Leukopenic Samples on a Sysmex XN Hematology Analyzer: Analytical Performance Evaluation of Whole Blood Mode and Low White Blood Cell Mode.","authors":"Jongho Yi, Hanah Kim, Gun-Hyuk Lee, Hyejung Lee, SeungWan Kim, Mina Hur","doi":"10.3343/alm.2026.0225","DOIUrl":"https://doi.org/10.3343/alm.2026.0225","url":null,"abstract":"<p><strong>Background: </strong>Sysmex XN-9100 (XN) measures WBC counts in whole blood (WB) mode and automatically switches to low WBC (LW) mode for leukopenic samples (WBC <0.50×10⁹/L). However, the analytical performance of LW mode in such samples has not been evaluated according to standard guidelines. We evaluated the analytical performance of the two modes in samples with WBC <0.50×10⁹/L.</p><p><strong>Methods: </strong>Precision of WBC quantification in the two modes was evaluated using four samples according to the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) criterion (CV% 5.6). Linearity was evaluated at five concentrations. The two modes were compared in 650 leukopenic samples. Two samples showing discrepancies between the two modes were reviewed.</p><p><strong>Results: </strong>WBC counting precision met the EFLM criterion for both modes, except in a sample with WBC <0.2×10⁹/L. Linearity was acceptable and within the allowable deviation of ±4.8% for both modes. Very high correlation (<i>r</i>=0.99), minimal mean difference (0.00×10⁹/L), and almost perfect agreement (<i>κ</i>=0.90) were noted. Discrepant samples were interpreted as clinically consistent in WB and LW modes in one case each.</p><p><strong>Conclusions: </strong>This is the first study to evaluate the analytical performance of WBC counting in WB and LW modes on XN in samples with WBC <0.50×10⁹/L according to guidelines. The two modes demonstrated reliable analytical performance. As precision decreased at WBC <0.2×10⁹/L and discrepancies between the two modes were rare, careful attention is recommended.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149190976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commutability Assessment of Materials for Serum Copper Measurement Using the IFCC Difference-in-Bias and the CLSI EP30 Approaches.","authors":"Mengyu Xu, Weiyan Zhou, Zhenni Liu, Haijian Zhao, Jiangtao Zhang, Hao Zheng, Tianjiao Zhang, Yungang Pu, Qian Zhang, Jie Zeng, Chuanbao Zhang","doi":"10.3343/alm.2026.0110","DOIUrl":"https://doi.org/10.3343/alm.2026.0110","url":null,"abstract":"<p><strong>Background: </strong>Evidence on the commutability of material for serum copper when assessing multiple material categories and assay pairs remains limited.</p><p><strong>Methods: </strong>We evaluated 21 reference materials for serum copper across four routine colorimetric systems and an inductively coupled plasma mass spectrometry (ICP-MS)-based candidate reference method (System G). The materials included pooled frozen human serum, lyophilized external quality assessment (EQA) materials, aqueous materials, commercial control sera, a certified animal-serum reference material, and manufacturers' calibrators. Commutability was assessed pairwise using the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) difference-in-bias and the CLSI EP30 prediction-interval approaches. The homogeneity and stability of pooled frozen human-serum materials (RM1-RM3) were also evaluated.</p><p><strong>Results: </strong>Correlations were high across assay pairs, but proportional differences were generally larger in comparisons involving ICP-MS. With the IFCC approach, commutability varied by material type and assay pair; pooled frozen human serum and several serum-based EQA materials showed favorable performance, whereas aqueous materials and some calibrator-related materials more frequently showed assay pair-dependent non-commutability. The CLSI EP30 approach yielded more non-commutable classifications for pairs with ICP-MS than IFCC, but not uniformly across comparisons. Evaluated materials showed better commutability with routine-routine pairs than with pairs including ICP-MS. RM1-RM3 showed low between-vial variation, and bias after storage was lower at -20°C than at 4°C or 20-25°C.</p><p><strong>Conclusions: </strong>Material characteristics, assay combination, and assessment framework influenced serum copper commutability. Pooled frozen human-serum materials showed favorable commutability, particularly for routine-routine pairs, supporting the use of native serum-like materials in serum copper-commutability studies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calprotectin as a Prognostic Marker for Sepsis Independent of Renal Dysfunction.","authors":"Youjin Chang, Ju Hyun Oh, Myung Jin Lee, Soo Jin Yoo","doi":"10.3343/alm.2026.0113","DOIUrl":"https://doi.org/10.3343/alm.2026.0113","url":null,"abstract":"<p><strong>Background: </strong>The role of calprotectin in sepsis pathophysiology is becoming increasingly recognized; however, optimal biomarkers for sepsis prognosis are lacking. We compared the prognostic accuracy of calprotectin with that of established biomarkers.</p><p><strong>Methods: </strong>In this single-center prospective cohort study, patients who met the Sepsis-3 criteria were recruited between December 2022 and January 2024. Blood samples were collected at sepsis recognition (day 0) in the emergency department and on days 3 and 7 during the intensive care unit admission.</p><p><strong>Results: </strong>Ninety patients with community-onset sepsis were included (median age, 79 yrs [69-85]; 51 women [56.7%]), and 17 patients (18.9%) died during hospitalization. Pneumonia was the most common etiology in both survivors and non-survivors. Calprotectin showed good prognostic performance across all time points, without significant temporal differences (area under the curve [AUC], day 0, 0.785 [95% confidence interval, 0.681-0.890]; day 3, 0.800 [0.680-0.921]; day 7, 0.813 [0.696-0.930]; all <i>P</i> <0.001). After estimated glomerular filtration rate (eGFR) adjustment, the predictive performance of calprotectin was preserved, whereas presepsin and procalcitonin showed significant renal function dependency. Calprotectin did not significantly correlate with eGFR and showed good prognostic performance regardless of renal dysfunction status. Incremental value analyses revealed that serial calprotectin measurements provided no significant improvement over baseline assessment. In pneumonia-induced sepsis, calprotectin consistently showed the highest AUC, regardless of renal adjustment.</p><p><strong>Conclusions: </strong>Calprotectin demonstrated reliable prognostic performance for hospital mortality in community-onset sepsis independently of renal dysfunction, warranting validation in larger cohorts. A single measurement at initial presentation could provide clinically useful early prognostic information.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149164035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Practice Guidelines for Pleural Effusion and Bronchoalveolar Lavage Fluid-Based Circulating Tumor DNA Testing in Lung Cancer.","authors":"Jaewoong Lee, Ju Sang Kim, Hoon Seok Kim, Myungshin Kim","doi":"10.3343/alm.2026.0303","DOIUrl":"https://doi.org/10.3343/alm.2026.0303","url":null,"abstract":"<p><strong>Background: </strong>Pleural effusion (PE) and bronchoalveolar lavage fluid (BALF) are increasingly investigated as alternative sources of circulating tumor DNA (ctDNA) for lung cancer molecular testing. As specimen-collection sites are close to thoracic tumors, specimens may contain clinically informative concentrations of tumor-derived DNA. However, standardized recommendations for PE/BALF-based ctDNA testing remain limited; practical, consensus-based recommendations for this testing in lung cancer were developed.</p><p><strong>Methods: </strong>The guidelines were developed using a structured multistep process modeled on the recent blood-based ctDNA guidelines. A targeted systematic literature review and evidence appraisal were performed, a national practice survey assessed current implementation barriers in Korea, and draft recommendations were refined through a two-round Delphi consensus involving eight multidisciplinary experts.</p><p><strong>Results: </strong>Twenty-seven studies were included in the qualitative review; 26 directly informed formal evidence grading, whereas one mixed-body-fluid implementation study was retained for contextual reference. The evidence was dominated by PE studies, with substantially fewer BALF-specific investigations. In a national survey of 109 analyzable respondents, 23 (21.1%) reported implementation of PE/BALF-based ctDNA testing. Lack of standardized protocols, reimbursement barriers, and technical complexity were common obstacles. Fifteen recommendations were finalized across three domains: pre-analytical procedures (R1-R4), analytical aspects and validation/quality management (R5-R8), and result interpretation, reporting, and clinical application (R9-R15). All recommendations met consensus-in criteria in round 1; agreement stability was confirmed in round 2.</p><p><strong>Conclusions: </strong>These consensus-based recommendations practically guide the implementation, validation, reporting, and interpretation of PE/BALF-based ctDNA testing in lung cancer, while highlighting the need for further matrix-specific evidence, particularly for BALF.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PseudoRA: A Novel Pseudogene ReAligner for Detecting <i>SBDS</i> Variants in Shwachman-Diamond Syndrome.","authors":"Yu Jin Park, Kyunghee Yu, Dongju Won, Seungmin Hahn, Jung Woo Han, Seung-Tae Lee, Jong Rak Choi, Jiyoung Oh, Saeam Shin","doi":"10.3343/alm.2026.0233","DOIUrl":"https://doi.org/10.3343/alm.2026.0233","url":null,"abstract":"<p><p>Accurate detection of pathogenic variants in genes with highly homologous pseudogenes remains challenging in next-generation sequencing (NGS). <i>SBDS</i>, the causative gene for Shwachman-Diamond syndrome (SDS), is challenging to analyze because of interference from its pseudogene, <i>SBDSP1</i>, causing frequent read misalignment and false-negative variant calls, especially for low-variant-allele-frequency (VAF) variants such as c.183_184delinsCT. We developed Pseudogene ReAligner (PseudoRA), a novel bioinformatics algorithm that resolves gene-pseudogene misalignment through read realignment and haplotype-based reassignment. PseudoRA was retrospectively applied to targeted NGS binary alignment map files from 846 patients with suspected hematological disorders, and its performance was compared with that of conventional analysis, HapICE, and Sanger sequencing. Conventional NGS identified <i>SBDS</i> variants in six patients (0.7%), whereas PseudoRA detected variants in 10 patients (1.2%), representing a 1.7-fold increase in diagnostic yield. PseudoRA identified seven additional cases, including low-VAF c.183_184delinsCT variants that had been missed or misclassified when assessed using conventional analysis. All variants detected via PseudoRA showed 100% concordance with Sanger sequencing. PseudoRA demonstrated comparable sensitivity to HapICE but enabled broader detection across multiple exons. PseudoRA improves the molecular diagnosis of SDS by recovering mismapped low-VAF variants and offers a scalable solution that can be integrated into conventional clinical pipelines.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Evaluation of the Utility of Machine Learning-Based Subtype Classifiers of Acute Lymphoblastic Leukemia in Identifying Cryptic and Novel Fusions","authors":"Seoyoung Lim,Yu Jeong Choi,Yu Jin Park,Dongju Won,Seung-Tae Lee,Jong Rak Choi,Saeam Shin","doi":"10.3343/alm.2026.0124","DOIUrl":"https://doi.org/10.3343/alm.2026.0124","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"36 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149092036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma Long Non-coding RNAs for Molecular Diagnosis of Colon Cancer: A Validated Multivariable Model","authors":"Madalin Alexandru Cobzariu,Rebeca Miranda-Castro,Óscar Luis González-Bernardo,Aida Suárez-Sánchez,Daniel Fernández-Martínez,Luis Joaquín García-Flórez,María Jesús Lobo-Castañón","doi":"10.3343/alm.2026.0296","DOIUrl":"https://doi.org/10.3343/alm.2026.0296","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"1 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149088882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nationwide Multicenter Laboratory-Based Analysis of Varicella-Zoster Virus IgG and IgM Seropositivity in Korea, 2014–2024","authors":"Hae In Bang,Anna Lee,Jiwon Lee,Shinae Yu,Hyun-Woo Choi,Soo Jin Yoo,Young Ree Kim,Ji Hyun Kim,Hyun Soo Kim","doi":"10.3343/alm.2026.0003","DOIUrl":"https://doi.org/10.3343/alm.2026.0003","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"90 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149020346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cord Blood Quality and Banking Predictors Across Three Regulatory Phases: A Retrospective Study of 73,925 Units Collected over a 20-yr Period.","authors":"Eun Youn Roh, Hye Ryun Lee, Sue Shin, Jee Young Jang, Min A Kim, Jae Hee Lee, Byoung Jae Kim, Jong Hyun Yoon","doi":"10.3343/alm.2026.0169","DOIUrl":"https://doi.org/10.3343/alm.2026.0169","url":null,"abstract":"<p><strong>Background: </strong>Public cord blood (CB) banks provide essential hematopoietic stem cell sources for patients without matched donors. With haploidentical and haplo-cord transplantation expanding, reassessing CB banking quality and efficiency is increasingly important. We analyzed 20-yr operational data from Korea's largest public CB bank to identify quality trends and predictive factors for banking success.</p><p><strong>Methods: </strong>We retrospectively analyzed CB units processed at a single public CB bank across three regulatory phases: phase 1 (pre-Act, 05/2006-06/2011), phase 2 (07/2011-12/2020), and phase 3 (Act Amendment, 01/2021-12/2025). Multiple linear regression with mean-centered predictors and multivariable logistic regression with bootstrap validation were used to identify factors influencing pre-processing total nucleated cell (TNC) count and banking outcome, respectively.</p><p><strong>Results: </strong>Of 73,925 units, 27,684 (37.4%) were banked. Banking rates declined from 35.6% to 24.8% across phases, while post-processing TNC in banked units increased from 10.08 to 11.87×10⁸ and TNC recovery from 74.4% to 85.6% (all pairwise <i>P</i> <0.001). Collection volume was the strongest pre-processing TNC count predictor. Pre-processing TNC count and TNC recovery were the primary banking determinants. Caesarean section lowered pre-processing TNC count but independently improved banking odds. Delivery hospital effects were significant in both regression analyses (<i>P</i> <0.001).</p><p><strong>Conclusions: </strong>Quality metrics improved across regulatory phases despite declining banking rates. Collection volume, delivery mode, and hospital-level variation are key modifiable factors. Standardized collection protocols and collector education are warranted to optimize CB banking efficiency.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148987756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}