Annals of Laboratory Medicine最新文献

{"title":"Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.","authors":"Seoyoung Lim, Kwang Seob Lee, Dongju Won, Sung Hyun Seo, Seung-Tae Lee, Jong Rak Choi, Jieun Seo, Saeam Shin","doi":"10.3343/alm.2025.0171","DOIUrl":"10.3343/alm.2025.0171","url":null,"abstract":"<p><strong>Background: </strong>Precision oncology is advancing, increasing the demand for comprehensive, non-invasive genomic profiling tools. Liquid biopsy using circulating tumor DNA (ctDNA) enables real-time molecular profiling, treatment monitoring, and early detection of resistance variants. We developed the PAN100 panel (Dxome), a hybridization capture panel targeting 101 genes, as a pan-cancer genotyping assay to detect clinically actionable variants across various cancer types. This study presents the first comprehensive validation of the PAN100 panel including both analytical and clinical performance across eight cancer types using reference materials and matched tissue samples.</p><p><strong>Methods: </strong>For analytical validation, we assessed accuracy, limit of detection (LoD), and precision using Seraseq ctDNA v2 Reference Materials (SeraCare, Milford, MA, USA). Clinical validation was performed using plasma samples from 27 patients with eight types of cancer and 17 matched tumor samples. Positive percent agreement (PPA) between ctDNA and tissue next-generation sequencing (NGS) results was assessed using TruSight Oncology 500 and TruSight Tumor 170 assays. The limit of blank (LoB) was evaluated in 34 healthy individuals.</p><p><strong>Results: </strong>The PAN100 panel demonstrated high precision and linearity (LoD, 0.3%; 95.0% confidence interval, 0.29-0.35) variant allele frequency. The PPA between ctDNA and tissue NGS was 73.1% for single-nucleotide variants, 80.0% for insertions/deletions, and 74.2% overall. The LoB was 0.00001%.</p><p><strong>Conclusions: </strong>The PAN100 panel is a robust tool for detecting clinically significant variants with high concordance with tissue NGS. Its sensitivity for low-frequency variants enables real-time treatment adaptation, supporting precision oncology. Its comprehensive design is particularly valuable for challenging diagnoses and clonal evolution monitoring.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"210-219"},"PeriodicalIF":4.4,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940392","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":"Recent Trends in Cytomegalovirus IgG Seropositivity in the Adult Population of Korea: a Cross-Sectional Study and Literature Review.","authors":"Changhee Ha, Anna Lee, Hee-Won Moon","doi":"10.3343/alm.2025.0326","DOIUrl":"10.3343/alm.2025.0326","url":null,"abstract":"<p><strong>Background: </strong>Cytomegalovirus (CMV) infection is prevalent worldwide. Although Korea has historically shown high CMV IgG seropositivity (>95%), declines have been reported recently. We assessed current CMV IgG seropositivity and analyzed prevailing trends in the Korean population.</p><p><strong>Methods: </strong>Residual samples from individuals undergoing regular health checkups were analyzed. We assessed 1,978 samples (from 937 men and 1,041 women) where the age group distribution was relatively balanced. CMV IgG levels were measured at two institutions using a commercial immunoassay (Alinity i CMV IgG Reagent Kit, Abbott) following the manufacturer's instructions. Results were interpreted as \"reactive\" when the CMV IgG concentration was ≥ 6.0 arbitrary units (AU)/mL or \"nonreactive\" when the CMV IgG concentration was <6.0 AU/mL. Seropositivity was compared by sex and across age groups (20-29, 30-39, 40-49, and 50-59 yrs).</p><p><strong>Results: </strong>The overall CMV IgG seropositivity was 89.9% (1,778/1,978) and was significantly higher in men (91.7%, 859/937) than in women (88.3%, 919/1,041) (difference: 3.4%; 95% confidence interval: 0.8%-6.0%; <i>P</i> =0.012, chi-square test). No significant differences with regard to sex were found within each age group. Seropositivity increased with age, from 76.3% (347/455, 20-29 yrs) to 99.8% (448/449, 50-59 yrs) (<i>P</i> for trend <0.001), consistently in both sexes.</p><p><strong>Conclusions: </strong>Our findings provide the most up-to-date estimate of CMV IgG seropositivity in the Korean adult population. Because of lower seropositivity in younger adults, continued monitoring and further education are essential for CMV control and prevention.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"171-179"},"PeriodicalIF":4.4,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145595516","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":"Monthly Biological Variation of Five Lung Cancer Markers in Healthy Older Individuals: Evidence from Combined Prospective Cohort and Real-World Data Analyses.","authors":"Ziyang Han, Dan Yang, Hongyi Wang, Zihan Su, Xu Wang, Lei Zhao, Runqing Mu, Ye Qin, Yusi Liu, Min Zhao","doi":"10.3343/alm.2025.0528","DOIUrl":"https://doi.org/10.3343/alm.2025.0528","url":null,"abstract":"<p><strong>Background: </strong>Elderly populations face disproportionate lung cancer burdens; however, biological variation (BV) data for key tumor markers (carcinoma embryonic antigen [CEA], neuron-specific enolase [NSE], cytokeratin 19 fragment [Cyfra21-1], progastrin-releasing peptide [ProGRP], and squamous cell carcinoma antigen [SCC-Ag]) in this demographic remain scarce, impeding personalized result interpretation. This study explored BV for these five lung cancer markers among older Chinese individuals.</p><p><strong>Methods: </strong>We prospectively enrolled 45 healthy Chinese adults aged 60-75 yrs for six monthly blood collections. BV components (within-participant [CV_I], and between-participant [CV_G]) were estimated using nested ANOVA and Bayesian hierarchical modeling. Real-world data (N=8,003) were analyzed for CEA. Methods followed BV data critical appraisal checklist standards.</p><p><strong>Results: </strong>All markers showed high individuality, with individuality indices (II) <1.4. CEA exhibited the lowest II of 0.18. Bayesian hierarchical modeling and nested ANOVA produced comparable BV estimates. CEA had higher CV_I (11.3%, 95% confidence interval [CI]: 10.2%-12.5%) than European data (6.4%, 95% CI: 6.0%-6.7%). Cyfra21-1 displayed sex-specific CV_I differences. The CV_I of CEA estimates remained consistent across sampling intervals in direct (1-5 months: 9.7%-12.3%) and indirect methods (1-365+ days: 17.2%-18.1%). Harris-Brown heterogeneity ratio analysis revealed substantial heterogeneity of individual within-participant BV (CV_p(i)) for CEA, supporting CV_p(i)-derived reference change values (RCVs).</p><p><strong>Conclusions: </strong>This study establishes the first comprehensive BV database for lung cancer biomarkers in elderly Asians. Stable monthly variation enables flexible monitoring protocols. Our findings support implementing personalized RCVs for clinical interpretation and facilitate earlier therapeutic interventions for aging individuals.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146163883","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":"Evaluating a Flexible Workflow for <i>Candida auris</i> Surveillance on the AltoStar Automation System AM16 with Commercial and In-House Real-Time PCR Assays.","authors":"Chun Kiat Lee, Janet Weng Sze Cheng, Nur Atiqah Liyana, Dilys Shi Ning Lau, Kelvin Kyaw Lin, Tim Hon Man Chan, Ka Lip Chew, Jeanette Woon Pei Teo","doi":"10.3343/alm.2025.0574","DOIUrl":"10.3343/alm.2025.0574","url":null,"abstract":"<p><strong>Background: </strong>Multidrug-resistant yeast <i>Candida</i> (<i>Candidozyma</i>) <i>auris</i>, responsible for healthcare-associated outbreaks and high mortality, is a major global health threat. Rapid and scalable molecular diagnostics is essential; however, few automated platforms can accommodate both commercial assays and laboratory-developed tests (LDTs). We evaluated the analytical and clinical performance of two real-time PCR assays for C. auris detection using the AltoStar Automation System AM16.</p><p><strong>Methods: </strong>One assay was an in-house LDT (targeting the internal transcribed spacer region), while the other was AltoStar <i>C. auris</i> PCR Kit 1.5 (Altona Diagnostics) assay. An integrated workflow, which included automated nucleic acid extraction and PCR setup, was employed. Analytical performance was evaluated in terms of precision, specificity, and limit of detection (LoD) using <i>C. auris</i> Clades I, II, and VI. Clinical accuracy was assessed using a 36-sample panel (surveillance swabs and contrived positives) tested in parallel with the DiaSorin Simplexa <i>C. auris</i> Direct assay (DiaSorin Molecular LLC), with culture as the reference standard.</p><p><strong>Results: </strong>Both assays demonstrated excellent reproducibility, with CVs below 5%, and 100% analytical specificity. The in-house LDT showed greater sensitivity, with LoDs of 25-191 colony-forming units (CFU)/mL (1.56-12 CFU/reaction) versus 52-235 CFU/mL (3.25-15 CFU/reaction) for the Altona assay. Regarding clinical accuracy, the LDT, Altona assay, and DiaSorin assay showed 100% positive and negative agreement with the culture results (Cohen's kappa=1.00).</p><p><strong>Conclusions: </strong>This is the first documented comparison of a commercial assay and an LDT on the AltoStar AM16, demonstrating the platform's flexibility, which can enhance laboratory adaptability and capacity to combat the spread of <i>C. auris</i>, a critical fungal pathogen.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146148934","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":"Necessity for Development and Validation of Comprehensive Circulating Tumor DNA Profiling Panels.","authors":"Young-Gon Kim,Jong-Won Kim","doi":"10.3343/alm.2026.0023","DOIUrl":"https://doi.org/10.3343/alm.2026.0023","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"72 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146069867","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":"Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations.","authors":"Eul-Ju Seo","doi":"10.3343/alm.2026.0030","DOIUrl":"https://doi.org/10.3343/alm.2026.0030","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"72 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146069902","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":"A Novel Algorithm for Detecting Monoclonal IgM in Patients with an Elevated Lipemia Index Using the Beckman Coulter AU5800 Analyzer.","authors":"Álvaro Piedra-Aguilera,Carla Fernández-Prendes,Susana Malumbres-Serrano,Laura Abril-Sabater,Albert Oriol-Rocafiguera,Cristian Morales-Indiano","doi":"10.3343/alm.2025.0456","DOIUrl":"https://doi.org/10.3343/alm.2025.0456","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"130 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146069842","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":"Molecular and Microbiological Characteristics of Uropathogenic Escherichia coli Harboring CTX-M-55.","authors":"Heejeong Kwon,Jeoungyeon Kim,Jinnam Kim,Se Yoon Park,Choseok Yoon,Yangsoon Lee,Bongyoung Kim","doi":"10.3343/alm.2025.0288","DOIUrl":"https://doi.org/10.3343/alm.2025.0288","url":null,"abstract":"The extended-spectrum β-lactamase (ESBL) CTX-M-55, a CTX-M-15 variant distinguished by an amino-acid substitution (Ala77Val), has enhanced enzymatic activity due to higher structural stability. In Korea, CTX-M-55 remains insufficiently characterized, particularly in the context of urinary tract infections (UTIs). We identified CTX-M-55 among uropathogenic Escherichia coli isolates and compared its microbiological characteristics with those of CTX-M-15. In total, 247 E. coli isolates were collected from patients with acute pyelonephritis at Hanyang University Seoul Hospital, an 860-bed tertiary-care hospital, between July 2019 and December 2021. ESBL production was confirmed using a double-disk synergy test, and minimum inhibitory concentrations (MICs) were determined. Resistance genes were detected using PCR, and CTX-M-15 sequences were analyzed. Among 38 isolates detected using PCR, eight were confirmed as CTX-M-55 using further sequence analysis. CTX-M-55 showed (P >0.05) a trend toward increased resistance to aztreonam, cefotaxime, ceftazidime, and cefepime, while showing decreased resistance to amoxicillin/clavulanate and piperacillin/tazobactam. CTX-M-55 had higher MIC50 values than CTX-M-15 for ceftazidime (>16 vs. 8 μg/mL), cefepime (32 vs. 1 μg/mL), and piperacillin/tazobactam (0.5 vs. 0.25 μg/mL). Virulence factors and coexisting resistance genes did not significantly differ. Our findings suggest that, given its increased resistance to ceftazidime and cefepime, CTX-M-55 should be considered when treating UTIs in Korea.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"250 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145956217","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":"Changes in Sero-Immunological Status for Infectious Diseases in Solid Organ Transplantation: A 20-year Single-Center Study in Korea.","authors":"Jinyoung Yang,Jae-Hoon Ko,Sanghoon Lee,Dong Hyun Sinn,Jongman Kim,Kyeongman Jeon,Jae Berm Park,Jin-Oh Choi,Wooseong Huh,Yae-Jean Kim,Eun-Suk Kang,Seung Hoo Lee,Min Seo Kang,Kyungmin Huh,Sun Young Cho,Cheol-In Kang,Doo Ryeon Chung,Kyong Ran Peck","doi":"10.3343/alm.2025.0459","DOIUrl":"https://doi.org/10.3343/alm.2025.0459","url":null,"abstract":"BackgroundWith increasing solid organ transplantations (SOTs), updated sero-immunological data are essential, as immune profiles shift across generations and influence preventive strategies. We aimed to evaluate the current sero-immunological status of SOT recipients in Korea.MethodsWe retrospectively analyzed pre-transplant sero-immunological test results for 12 infectious diseases from SOT recipients and donors at a single center over 20 yrs. All serological test results obtained during pre-transplant evaluations were included; identical results from repeat tests conducted within 1 yr were excluded. Temporal trends in seropositivity were assessed based on test year, age at testing, and birth cohort.ResultsIn total, 51,096 pre-transplant serological test results (35,159 from recipients and 15,937 from donors) were analyzed. Seropositivity rates remained stable throughout the test year, except for a decline for tuberculosis-specific interferon-gamma release assay (TB IGRA). By birth cohort, seropositivity for varicella-zoster virus (98.8%), herpes simplex virus (HSV; 95.7%), and cytomegalovirus (CMV, 99.4%) was high in individuals born before the 1980s but declined in younger cohorts (69.3%, 46.6%, and 81.1%, respectively; all P < 0.001). The overall proportions of donor-positive/recipient-negative transplantation remained stable (CMV 1.3%, HSV 3.8%, and Epstein-Barr virus 2.5%). Seropositivity for hepatitis A virus and measles decreased markedly in individuals born after the 1980s (35.7% and 77.9%, respectively) compared with those born earlier (84.3% and 94.1%; both P < 0.001). Toxoplasma antibody and TB IGRA positivity (both P <0.001) demonstrated significant age-dependent declines across SOT recipients.ConclusionsThe sero-immunological landscape of SOT candidates has changed over time, reflecting generational shifts in Korean society. These changes highlight the importance of targeted screening and tailored management, particularly for high-risk donor-seropositive/recipient-seronegative transplantations, as well as the critical need for timely immunization in transplant candidates.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"47 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145956067","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":"Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.","authors":"Xinyi Lu,Yumeng Ma,Xiaomei Luo,Xiaoyan Huo,Jie Wang,Yi Liu,Huili Liu,Ting Xu,Qianfeng Zhao,Yongguo Yu,Yanjie Fan","doi":"10.3343/alm.2025.0434","DOIUrl":"https://doi.org/10.3343/alm.2025.0434","url":null,"abstract":"BackgroundBlood RNA sequencing (RNA-seq) is increasingly used to enhance diagnostic yield in genetic disorders; however, technical optimization is critical for clinical implementation. We evaluated key technical considerations for blood RNA-seq, including globin depletion methods, inter-batch variability, and sample types (whole blood vs. isolated peripheral blood mononuclear cells [PBMCs]).MethodsWe compared the applicability of reagent-based globin removal (globin-RR) with bioinformatic globin removal (globin-BR) in whole-blood RNA-seq in terms of globin depletion efficiency and required sequencing depth, assessed batch effects in globin-RR samples using principal component and correlation analyses, and compared the use of whole blood versus PBMCs in terms of expression correlations and the number of detected Mendelian disease-associated genes.ResultsGlobin-RR performed better than globin-BR, achieved better coverage of clinically relevant Mendelian disease-associated genes (51.85% vs. 40.79%), and required fewer total sequencing reads (mean, ~107 vs. ~149 million) to obtain 100 million non-globin reads. Batch effects of globin-RR were low (inter-batch correlation, R2>0.96). PBMCs out-performed whole blood in terms of the number of Mendelian disease-associated genes (3,675 in PBMCs vs. 3,598 in whole blood) and percentage of highly expressed (transcripts per million >5) Mendelian disease-associated genes (54.46% vs. 51.85%) detected and therefore was the preferred sample type for RNA-seq.ConclusionsGlobin-RR is effective, reproducible, and practical for use in clinical whole-blood RNA-seq. With high concordance and a slightly broader gene detection range than whole blood, PBMCs are a viable alternative sample type for routine genetic diagnostic tests.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"21 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145956085","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}