Annals of Laboratory Medicine最新文献

{"title":"Progressive Decline in Interferon-γ Release is Associated with Cirrhosis Progression and Severity: A Prospective Preliminary Report.","authors":"Marie-Charlotte Delignette, Muzhda Haem Rahimi, Morgane Gossez, Teresa Antonini, Arnaud Riff, Estelle Peronnet, Franck Berthier, Fabienne Venet, Fanny Lebossé, Guillaume Monneret","doi":"10.3343/alm.2025.0490","DOIUrl":"10.3343/alm.2025.0490","url":null,"abstract":"<p><p>Cirrhosis progresses through distinct stages, with increasing severity and susceptibility to infections due to cirrhosis-associated immune dysfunction. Lymphocyte-based functional assays are considered the gold standard for assessing immune function, although none have been evaluated across different cirrhosis stages. We conducted a pilot study to assess whether performing interferon-γ (IFN-γ) release assays (IGRA), in response to a non-antigenic mitogen (phytohemagglutinin [PHA]), could help classify immune function and disease severity in 70 patients with cirrhosis awaiting liver transplantation. Disease severity ranged from chronic cirrhosis to acute-on-chronic liver failure. We measured IFN-γ release in response to PHA using a fresh heparinized whole-blood protocol. Progressive reduction in IFN-γ release correlated with increased disease severity parameters (with respect to total bilirubin level and number of organ failure instances). A moderate but highly significant correlation was observed between IFN-γ release and CD8⁺ T lymphocyte count (r=0.52, <i>P</i> <0.001). As a non-antigen-dependent mitogen, PHA enables the global assessment of lymphocyte IFN-γ-releasing capacity. Our whole-blood results suggest that PHA-IGRA testing may provide a useful parameter for characterizing immune dysfunction in patients with cirrhosis. These findings require further validation in larger cohorts to better define the clinical applicability of PHA-IGRA testing.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"624-628"},"PeriodicalIF":4.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147282007","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":"Essential Data Elements for Laboratory Test Interoperability: An Expert Consensus-Based Framework.","authors":"Ha Nui Kim, Min-Sun Kim, Sollip Kim, Kuenyoul Park, Eun-Jung Cho, Hyejin Ryu, YeJin Oh, Shinae Yu, John Hoon Rim, Sang-Mi Kim, Geon Park, Jaehyeon Lee, Hyun-Seung Lee, Hyun-Woo Choi, You Kyoung Lee, Jeong Hwan Shin, Sang-Guk Lee, Young Kyung Lee, Jeong-Yeal Ahn, Sail Chun, Jungchan Park, Jong-Yeup Kim, Hye Hyeon Kim, AeKyung Kwon, Kyunghoon Lee, Yeo-Min Yun, Dongheui An, Soyoun Shin, HyunYoung Ji","doi":"10.3343/alm.2026.0051","DOIUrl":"10.3343/alm.2026.0051","url":null,"abstract":"<p><p>The increasing digitalization of healthcare necessitates laboratory data interoperability to ensure reliable clinical decision-making, efficient data exchange, and effective secondary use. Most Korean institutions use electronic systems for laboratory test reporting. However, the lack of standardized terminology, measurement units, and data structures has led to reporting inconsistencies and limited integration across institutions. We have developed a guideline using a consensus-based laboratory data framework for essential laboratory data elements that is aligned with international standards and guidelines. The laboratory data framework organizes essential laboratory data elements into five categories: Patient, Test, Specimen, Date/time, and Administrative data. Each element is also assigned to one or more usage three tiers: Data for Clinical Data Interchange, Data for Report, and Data for Laboratory. Mandatory and conditional elements are further differentiated, incorporating aspects of clinical relevance, regulatory requirements, and implementation feasibility. The laboratory data framework incorporates terminology standards, such as the Logical Observation Identifiers Names and Codes, Systematized Nomenclature of Medicine-Clinical Terms, and Unified Code for Units of Measure, supporting both semantic and syntactic interoperability. This approach enables improved data consistency, facilitates national health information exchange, and lays a foundation for advanced applications, such as clinical decision support and artificial intelligence-driven analytics.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"507-523"},"PeriodicalIF":4.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13458177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148155109","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":"<i>Weissella viridescens</i> Bacteremia Associated with Acute Cholangitis: A Case Report.","authors":"Jiwoo Lee, Jee-Soo Lee, Taek Soo Kim, Hyunwoong Park, Moon-Woo Seong, Sue Shin, Jae Hyeon Park","doi":"10.3343/alm.2025.0749","DOIUrl":"10.3343/alm.2025.0749","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"640-642"},"PeriodicalIF":4.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13458174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147873052","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":"From Detection to Decision Support: Advancing AI-Assisted Serum Quality Assessment.","authors":"Sunghwan Shin, Sollip Kim","doi":"10.3343/alm.2026.0461","DOIUrl":"10.3343/alm.2026.0461","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"504-506"},"PeriodicalIF":4.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13458180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668289","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":"Protein S Levels to Guide Exon-Level Copy Number Variant Analysis of <i>PROS1</i> for Confirming Hereditary Protein S Deficiency: A 10-Year Single-Center Experience.","authors":"Sooho Yu, Min-Seung Park, Hyun-Young Kim, Taek Kyu Park, Sung-A Chang, Duk Kyung Kim, Hee-Jin Kim","doi":"10.3343/alm.2026.0053","DOIUrl":"10.3343/alm.2026.0053","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"629-632"},"PeriodicalIF":4.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13458179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866461","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":"Validation of Sequence-Specific Oligonucleotide Probe-Based HLA Homozygosity Classification Using 11-Locus Next-Generation Sequencing in Korean Cord Blood Units: Extended Haplotype Architecture and Implications for Induced Pluripotent Stem Cell Haplobanking.","authors":"Sue Shin, Eun Young Song, Eun Youn Roh","doi":"10.3343/alm.2026.0134","DOIUrl":"https://doi.org/10.3343/alm.2026.0134","url":null,"abstract":"<p><strong>Background: </strong>Induced pluripotent stem cell (iPSC) haplobanks require accurate identification of HLA-homozygous cord blood units (CBUs). We validated sequence-specific oligonucleotide probe (SSOP)-based homozygosity classification using high-resolution next-generation sequencing (NGS).</p><p><strong>Methods: </strong>We performed 11-locus NGS (<i>HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, HLA-DQA1, HLA-DQB1, HLA-DPA1, HLA-DPB1</i>) on 179 CBUs classified as <i>HLA-A, HLA-B</i>, and <i>HLA-DRB1</i> homozygous through SSOP typing at a Korean public cord blood bank. Concordance was evaluated at two-digit and four-digit resolutions, and extended homozygosity patterns were analyzed.</p><p><strong>Results: </strong>At the two-digit level, SSOP and NGS showed 100% concordance. At the four-digit level, true homozygosity was confirmed in 96.6% (<i>HLA-A</i>), 100% (<i>HLA-B</i>), and 97.8% (<i>HLA-DRB1</i>) of homozygous classifications. All 10 discordant cases involved intra-group allelic divergence. Among 169 confirmed homozygous CBUs, extended homozygosity was observed at <i>HLA-C</i> (97.6%), <i>HLA-DQA1</i> (100%), and <i>HLA-DQB1</i> (100%), whereas <i>HLA-DPA1</i> (56.2%) and <i>HLA-DPB1</i> (42.6%) showed lower rates reflecting the DQ-DP recombination hotspot. Two previously unreported alleles, subsequently designated <i>HLA-DPA1*01:106</i> and <i>HLA-DPB1*1344:01</i>, were identified at the DP loci.</p><p><strong>Conclusions: </strong>SSOP reliably identified <i>HLA-A, HLA-B, HLA-DRB1</i> homozygous CBUs and frequently resulted in effective five-locus matching owing to conserved extended haplotype structures. This two-tiered SSOP-to-NGS strategy offers a cost-effective framework for iPSC haplobanking in the Korean population.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148838890","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":"Incidental Constitutional Chromosomal Abnormalities Identified in Bone Marrow Chromosome Analysis: A Large-Scale Retrospective Study of 29,733 Individuals.","authors":"Jaeryuk Kim, Eul-Ju Seo","doi":"10.3343/alm.2026.0064","DOIUrl":"https://doi.org/10.3343/alm.2026.0064","url":null,"abstract":"<p><strong>Background: </strong>Constitutional chromosomal abnormalities detected during bone marrow (BM) chromosome analysis may be misclassified as acquired abnormalities. Although incidental findings identified through somatic tissue testing are increasingly recognized, data on incidental constitutional chromosomal abnormalities remain limited.</p><p><strong>Methods: </strong>We retrospectively reviewed BM chromosome studies performed during 1999-2025 at Asan Medical Center, encompassing 29,733 individuals. Chromosomal abnormalities reported as constitutional, based on germline confirmation or BM cytogenetic findings strongly suggesting a constitutional origin, were included. Cases without clinical recognition were classified as incidental. The cytogenetic spectrum, age at detection, prognostic impact, and follow-up testing were analyzed.</p><p><strong>Results: </strong>Constitutional chromosomal abnormalities were identified in 83 individuals (0.28%). Trisomy 21 was the most frequent abnormality (N=32), followed by sex chromosome abnormalities (N=16), reciprocal translocations (N=15), Robertsonian translocations (N=7), unbalanced structural abnormalities (N=7), and others (N=6). Among constitutional cases, 47 were identified as incidental (0.16% of total cohort). Only 16% of constitutional trisomy 21 cases were incidental. Individuals with incidental abnormalities were older than those with known constitutional abnormalities (median age, 24 vs. 2 yrs; <i>P</i> <0.001). Family testing was infrequently performed, occurring in five of 15 germline-confirmed cases (33.3%), all of whom were pediatric patients. In hematologic malignancies, inclusion of incidental constitutional abnormalities altered cytogenetic risk classification in five cases.</p><p><strong>Conclusions: </strong>Although incidental constitutional chromosomal abnormalities are rare, these abnormalities can influence prognostic assessment and downstream clinical management. Therefore, accurate recognition and appropriate confirmation are essential for optimal interpretation.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148838938","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":"Development and Validation of Mock Communities as Quality Control Materials for Clinical Metagenomic Next-Generation Sequencing.","authors":"Dokyun Kim, Songhee Lee, Da Young Kang, Byeol Yi Park, Eun Hae Oh, JinSeok Kang, Min Hyuk Choi, Jihoon G Yoon, Seok Hoon Jeong","doi":"10.3343/alm.2026.0143","DOIUrl":"https://doi.org/10.3343/alm.2026.0143","url":null,"abstract":"<p><strong>Background: </strong>Metagenomic next-generation sequencing (NGS) enables comprehensive detection of a broad spectrum of microorganisms. However, its clinical application faces two major challenges: the development of appropriate microbiome-based biomarkers and the need to ensure the reproducibility and quality of the microbiome analytical workflow. Therefore, we developed four types of bead-based mock communities as standard materials for microbiome analysis and evaluated potential experimental biases arising from nucleic acid extraction and sequence analysis.</p><p><strong>Methods: </strong>Mock communities were assembled from strains isolated from clinical specimens and selected considering Gram reaction, taxonomic phylogeny, and prevalence, and processed into frozen beads. The communities were analyzed using shotgun whole-metagenome sequencing. The effect of DNA extraction kit choice was evaluated using the Thermo Fisher Scientific MagMAX Microbiome Ultra Nucleic Acid Isolation Kit and Qiagen PowerSoil Kit.</p><p><strong>Results: </strong>Four types of mock communities comprising 26 species commonly found in the gastrointestinal tract, respiratory tract, skin, and genital tract plus cerebrospinal fluid were developed considering Gram reaction, GC content, and phylogenetic distribution. Across 25 repeated analyses, the median repeatability of each taxon was 18.97% (range, 2.87%-107.38%), while within-laboratory imprecision was 26.22% (range, 9.26%-153.83%). Repeatability remained below 10% for most dominant taxa with relative abundances >20%. The choice of DNA extraction kit had a significant effect on taxonomic distributions.</p><p><strong>Conclusions: </strong>Microbial mock communities are essential QC materials for clinical metagenomic NGS. Further studies are needed to minimize variability and establish a standardized protocol for clinical implementation.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148824250","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":"Precision in Prenatal Testing: Noninvasive Detection of Fetal ABO Blood Groups.","authors":"Daoju Ren, Cuiying Li, Xiaowei Li, Jun Xiao, Huifen Lei, Zhicai Li, Jiaqi Wang, Huimin Li, Xiaoying Bai","doi":"10.3343/alm.2026.0286","DOIUrl":"https://doi.org/10.3343/alm.2026.0286","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808128","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":"Baseline Plasma Cell-Free and Circulating Tumor DNA Across Lymphoma Subtypes and Its Prognostic Impact in Diffuse Large B-Cell Lymphoma","authors":"Jin Ju Kim, Yu Ri Kim, Hongkyung Kim, Hye Won Kook, Haerim Chung, Doh Yu Hwang, Ji Eun Jang, June-Won Cheong, Seung-Tae Lee, Jong Rak Choi, Saeam Shin, Jin Seok Kim","doi":"10.3343/alm.2026.0122","DOIUrl":"10.3343/alm.2026.0122","url":null,"abstract":"<p><strong>Background: </strong>Circulating tumor DNA (ctDNA) analysis enables real‑time assessment of the tumor burden and genomic complexity in lymphomas. However, real‑world evidence across lymphoma subtypes is limited.</p><p><strong>Methods: </strong>We analyzed cell‑free DNA (cfDNA) and ctDNA data from 336 consecutive patients with newly diagnosed Hodgkin or non-Hodgkin lymphoma in 2022 and evaluated their prognostic impact in diffuse large B‑cell lymphoma (DLBCL).</p><p><strong>Results: </strong>We detected somatic alterations in 248 of 336 patients (73.8%). DLBCL and follicular lymphoma showed the highest variant prevalences and ctDNA burdens. Epigenetic regulators, including <i>KMT2D, CREBBP, TET2</i>, and <i>HIST1H1E</i>, constituted the dominant class of genes with recurrent alterations. Plasma variant profiles closely mirrored publicly available, tissue‑based next-generation sequencing datasets. The baseline ctDNA burden correlated with adverse clinical features, and ctDNA positivity was associated with failure to achieve complete remission. In DLBCL, elevated cfDNA (top quartile) and a high International Prognostic Index (IPI) were independently associated with shorter overall and progression‑free survival. However, the total variant count per patient was not significantly associated with survival after adjustment.</p><p><strong>Conclusions: </strong>Baseline plasma cfDNA and ctDNA assessments are feasible in routine practice and recapitulate tissue-variant landscapes. Elevated cfDNA concentrations-but not the total variant count-were independently associated with survival in DLBCL, providing prognostic information beyond the IPI and supporting integration of plasma-based biomarkers into multiparameter risk models. Gene‑level ctDNA associations should be regarded as exploratory and hypothesis‑generating.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148787729","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}