Annals of Laboratory Medicine最新文献

{"title":"Clonal Burden, Immunoglobulin Heavy Chain Variable Gene Somatic Hypermutations, and Immunoglobulin Gene Repertoire in Korean Patients with Chronic Lymphocytic Leukemia Assessed by Next-generation Sequencing.","authors":"Taegeun Lee,Daehyun Chu,Miyoung Kim,Young-Uk Cho,Sang-Hyun Hwang,Jung-Hee Lee,Dok Hyun Yoon,Hyungwoo Cho,Seongsoo Jang","doi":"10.3343/alm.2025.0274","DOIUrl":"https://doi.org/10.3343/alm.2025.0274","url":null,"abstract":"BackgroundWe compared the immunoglobulin (IG) heavy chain (IGH) leader and FR1 primer sets to measure clone sizes and detect immunoglobulin heavy chain variable (IGHV) region somatic hypermutations (SHMs) in Korean patients with chronic lymphocytic leukemia (CLL). We also analyzed IGH and immunoglobulin kappa (IGK) to identify Korean-specific IGs in CLL.MethodsNext-generation sequencing (NGS)-based gene rearrangements and IGHV SHMs were assessed in 40 patients using IGH leader, IGH FR1, and IGK primers. Flow cytometry, karyotyping, interphase FISH, and NGS-based variant analyses were performed for 165 genes.ResultsClonal IGH and IGK rearrangements were detected in 100.0% and 97.5% of patients, respectively. Clonal size was generally smaller per NGS than per flow cytometry, particularly when using the IGH leader (median: 52.5%) versus the IGH FR1 primer set (73.2%). IGHV SHMs occurred in approximately 70% of patients; 10% showed primer set discrepancies. The incidence of IGHV SHMs was low in patients at high risk (i.e., with TP53 abnormalities; complex karyotypes; and ATM, NOTCH1, SF3B1, or BIRC3 variants). IGHV3 was the most common IGHV (58.3%), and IGHV4-34 was most frequently identified (14.6%). IGHV1 and IGHV1-69 usage differed significantly between Koreans and westerners. IGHJ4 was the most common IGHJ (56.3%). A single IGKV-IGKJ gene rearrangement was most frequently observed (18.9%), whereas intron-KDE was the most common rearrangement (30.6%).ConclusionsNGS may underestimate CLL clonal size, particularly when using the IGH leader primer set. IGHV SHMs were inversely associated with negative prognostic factors. Our data suggest ethnic differences in CLL pathogenesis.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"94 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145189374","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":"The Essential Role of Commutable Reference Materials and Their Assessment in Lipid Standardization.","authors":"Sung-Eun Cho","doi":"10.3343/alm.2025.0547","DOIUrl":"https://doi.org/10.3343/alm.2025.0547","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"53 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182611","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 a High-performance Liquid Chromatography-Tandem Mass Spectrometry Method for Detecting Adrenocortical Hormones and Establishment of Age-stratified Reference Intervals in Reproductive-aged Women from Guangxi, China.","authors":"Yixuan Liu,Tingwei Jin,Yushuang Wei,Xuelian Qin,Siyu Deng,Jie Zheng,Boteng Yan,Yuanyuan Nong,Yu Ye,Shengzhu Huang,Yu Long,Jianmin Li,Ganqin Wang,Pei Huang,Jinghang Jiang,Fan Wu,Zengnan Mo,Yonghua Jiang","doi":"10.3343/alm.2025.0090","DOIUrl":"https://doi.org/10.3343/alm.2025.0090","url":null,"abstract":"BackgroundAdrenocortical hormones, particularly 11-oxygenated androgens, are pivotal in female reproductive health and fertility. Standardized detection kits and population-specific reference intervals are lacking in China, hindering related clinical applications.MethodsA HPLC-tandem mass spectrometry (HPLC-MS/MS) pipeline was developed, rigorously validated, and applied to simultaneously quantify corticosterone, cortisone, cortisol, 18-OH cortisol, androstenedione (A4), 11β-hydroxyandrostenedione (11-OH A4), dehydroepiandrosterone, and dehydroepiandrosterone sulfate in serum samples from 455 reproductive-aged women (18-45 yrs) in Guangxi, China. Age-dependent concentration trends were analyzed, and reference intervals stratified by age (2.5th to 97.5th percentiles) were established. Correlations with body-composition metrics, ethnicity, and the menstrual cycle were investigated.ResultsThe HPLC-MS/MS method demonstrated high precision (intra- and inter-assay CVs <15%), accuracy, and sensitivity. All eight hormones exhibited significant age-related declines (P <0.001 for seven hormones; P =0.001 for 11-OH A4). Notably, 11-OH A4 levels were significantly lower in the 35-45-yr (3.05 nmol/L) and 25-34-yr (3.09 nmol/L) age groups than in the 18-24-yr (3.57 nmol/L) age group, whereas no significant difference was observed between the 35-45-yr and 25-34-yr age groups. Weak negative correlations were observed between the body mass index and corticosterone and cortisone levels, whereas ethnicity and the menstrual cycle showed no significant associations with hormone levels.ConclusionsWe developed an HPLC-MS/MS-based method for simultaneously quantifying eight adrenocortical hormones, including 11-OH A4, and defined age-specific reference intervals for reproductive-aged Chinese women. These findings advance the clinical utility of adrenocortical hormones in diagnosing and managing reproductive disorders.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"35 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127254","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":"Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.","authors":"Kyung Sun Park,Sunghwan Shin,Jong-Ho Park,Young-Eun Kim,Won Kyung Kwon,Min-Kyung So,Changhee Ha,Ja-Hyun Jang,Taeheon Lee,Chang-Seok Ki,Yoonjung Kim,Kyung-A Lee,Inho Park,Sejoon Lee,Hong-Hee Won, ,Jong-Won Kim","doi":"10.3343/alm.2025.0112","DOIUrl":"https://doi.org/10.3343/alm.2025.0112","url":null,"abstract":"BackgroundAs nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea's First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea.MethodsA prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC.ResultsThe initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P =1.6×10-5). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P =1.0×10-4), improved diagnostic rates with larger family recruitment (P =0.004), and refined clinical information for more precise genotype-phenotype correlation analysis (40%).ConclusionsAlthough national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"35 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071653","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":"Evaluation of Exosome-derived Small RNAs as Potential Biomarkers for Pancreatic Ductal Adenocarcinoma Using Next-generation Sequencing.","authors":"Hyemin Kim,Sabin Park,Myung Ji Goh,Young Hoon Choi,Minjee Kim,Jin Ho Choi,Jung Hyun Kim,Eun Mi Lee,Se-Hoon Lee,Kyu Taek Lee,Kwang Hyuk Lee,Jong Kyun Lee,Semin Lee,Joo Kyung Park","doi":"10.3343/alm.2025.0121","DOIUrl":"https://doi.org/10.3343/alm.2025.0121","url":null,"abstract":"BackgroundPancreatic ductal adenocarcinoma (PDAC) has a poor prognosis and lacks clinical biomarkers. Exosomes are extracellular vesicles that facilitate cell-cell communication by distributing macromolecules, such as small RNAs (smRNAs). We assessed the potential of exosome-derived small RNAs (Ex-smRNAs) as PDAC biomarkers.MethodsPeripheral blood was collected from 51 patients with PDAC and 15 control individuals. Exosomes were isolated using an aqueous two-phase system. Ex-smRNAs were analyzed using smRNA sequencing. smRNA-mediated target gene regulation was verified via The Cancer Genome Atlas analysis and in vitro transfection and wound-healing assays using PDAC organoids.ResultsThe total Ex-smRNA count was substantially reduced in patients with PDAC compared with that in control individuals. The levels of microRNAs (miRNAs) miR-125a-5p, miR-30e-5p, miR-16-2-3p, miR-98-5p, and the let-7 family were significantly suppressed, whereas that of miR-6731-5p was significantly elevated. Let-7c-5p and miR-98-5p were found to interact with the long non-coding RNA OLMALINC to regulate their common target genes, BACH1 and CCND1, thus controlling PDAC proliferation and migration. The expressions of CARS1-AS1 and miR-142-5p were upregulated in treatment-responsive patients. Multivariable Cox regression analyses, adjusting for potential prognostic factors such as sex, Eastern Cooperative Oncology Group performance status, and tumor size and stage, revealed that CARS1-AS1 (adjusted hazard ratio [HR] 0.33; 95% confidence interval [CI], 0.15-0.73; P =0.0061) and miR-142-5p (adjusted HR 0.79; 95% CI, 0.61-1.01; P = 0.0581) were associated with improved overall survival.ConclusionsWe identified potential Ex-smRNA biomarkers involved in PDAC progression and prognosis that reflect key molecular alterations in PDAC and may serve as clinically relevant biomarkers for disease monitoring.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"89 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071682","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":"Prospective Comparative Evaluation of the Xpert MTB/RIF and Xpert MTB/RIF Ultra Assays for Detecting Mycobacterium tuberculosis and Rifampin Resistance in High-resource, Intermediate-burden Settings.","authors":"Eunsang Suh,Sangsoo Jung,Jun-Ki Lee,Byung Woo Jhun,Tae Yeul Kim,Hee Jae Huh,Nam Yong Lee","doi":"10.3343/alm.2025.0101","DOIUrl":"https://doi.org/10.3343/alm.2025.0101","url":null,"abstract":"BackgroundThe Xpert MTB/RIF Ultra (Xpert Ultra) was introduced to enhance the sensitivity of tuberculosis detection, particularly in smear-negative cases, compared with its predecessor, Xpert MTB/RIF (Xpert). However, its performance in high-resource, intermediate-burden settings remains unassessed. We prospectively compared the diagnostic accuracy of Xpert Ultra and Xpert for detecting Mycobacterium tuberculosis (MTB) and rifampin resistance in Korea.MethodsIn total, 309 respiratory specimens were analyzed using both assays. We used two reference standards: mycobacterial culture and a composite reference standard based on clinical diagnosis and treatment decisions. Diagnostic performance, including sensitivity, specificity, and agreement between the two assays, was assessed. Spiking experiments using 13 MTB isolates with known rpoB mutations were performed to evaluate rifampin resistance detection.ResultsXpert Ultra showed increased, albeit not significantly, sensitivity (73.7% vs. 65.8% with culture; 63.8% vs. 53.2% with the composite reference standard) over Xpert. Its specificity was comparable to that of Xpert; however, a few false-positive results were observed among trace- and very low-positives. Among six culture-negative but Xpert Ultra-positive cases, two were clinically diagnosed as tuberculosis. Of the 13 rpoB mutant strains, Xpert correctly detected all mutations in the rifampin resistance-determining region, whereas Xpert Ultra yielded indeterminate results for Q432P and Q429H/L430P/H445Q.ConclusionsXpert Ultra tends to have increased sensitivity; however, it shows potential diagnostic ambiguity associated with trace- or very low-positive results. These findings highlight the importance of clinical correlation, particularly in culture-negative cases. Indeterminate results in certain rpoB mutations require cautious interpretation.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"19 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058943","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":"Standardized Medical Terminology: Awareness and Application Among Members of the Korean Society for Laboratory Medicine.","authors":"Shinae Yu,Byung Ryul Jeon,Changseung Liu,Dokyun Kim,Hae-Il Park,Hyung Doo Park,Jeong Hwan Shin,Jun Hyung Lee,Qute Choi,Sollip Kim,Yeo Min Yun,Eun-Jung Cho, ","doi":"10.3343/alm.2025.0287","DOIUrl":"https://doi.org/10.3343/alm.2025.0287","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"1 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145035999","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":"Optimization of the Total Testing Process Within the Big Data-to-Big Data Loop.","authors":"Won-Ki Min,Hyosoon Park","doi":"10.3343/alm.2025.0238","DOIUrl":"https://doi.org/10.3343/alm.2025.0238","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"16 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031785","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":"Effect of Exposure to Room Temperature During Storage on Cryopreserved Umbilical Cord Blood Quality.","authors":"Kyeongmi Kim,Myung Seo Kang,Jiyoung Huh","doi":"10.3343/alm.2025.0030","DOIUrl":"https://doi.org/10.3343/alm.2025.0030","url":null,"abstract":"Cryopreserved umbilical cord blood (CB) for transplantation is occasionally exposed to room temperature during storage in cord blood banks. We evaluated the effect of room temperature exposure on the quality of cryopreserved CB. Forty frozen CB units stored in liquid nitrogen tanks were exposed to room temperature until they reached a target temperature of -130°C (group I), -60°C (group II), -40°C (group III), or -25°C (group IV) (N=10 in each group) and then re-stored. After re-thawing, the quality of the frozen CB was assessed based on the recovery rates of cell count, cell viability, and colony-forming unit granulocyte/macrophage (CFU-GM) content. The mean exposure times required to reach the target temperature were 0.83±0.14, 5.92±0.88, 10.28±1.0, and 16.0±1.62 mins for groups I-IV, respectively. CD34+ cell viability was significantly lower in group IV than in the other groups (P =0.009). The recovery rates of cell counts, cell viability except CD34+ cells, and CFU-GM did not significantly differ among the groups. Short-term exposure to room temperature for routine procedures and a temperature rise of up to -40°C during storage do not negatively affect the quality of cryopreserved CB.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"138 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031784","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":"Can Reference Materials Prepared Following CLSI C37-A Be Utilized Without Commutability Assessment? Perspectives Based on Lipid Measurements.","authors":"Jong Do Seo, Gye Cheol Kwon, Jeong-Ho Kim, Sang-Guk Lee, Junghan Song, Pil-Whan Park, Dongheui An, Qute Choi, Chan-Ik Cho, Sollip Kim, Yeo-Min Yun","doi":"10.3343/alm.2025.0010","DOIUrl":"10.3343/alm.2025.0010","url":null,"abstract":"<p><strong>Background: </strong>Ensuring reference material (RM) commutability is crucial for evaluating measurement traceability in order to standardize laboratory tests. However, commutability assessment is not routinely performed. We assessed whether RMs prepared following CLSI C37-A guidelines could be used without assessing commutability by evaluating their commutability for four lipid measurements using the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and CLSI EP14 protocols.</p><p><strong>Methods: </strong>We analyzed total cholesterol (TC), triglycerides (TGs), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) in frozen sera from 20 individuals and 11 RMs, prepared by the Korea Disease Control and Prevention Agency-Laboratory Standardization Project (per CLSI C37-A), using six routine measurement procedures (MPs). Regression equations and 95% prediction intervals derived from single-donor sera were analyzed following CLSI EP14. The IFCC protocol was used to assess differences in inter-MP biases between RM and clinical samples. The effect of the TG concentration on commutability was evaluated by analyzing biases between MP results and reference procedure-assigned values.</p><p><strong>Results: </strong>RMs were commutable for most MP pairs for TC and TG. Commutability for HDL-C and LDL-C varied across RMs, with RM10 and RM11 showing higher TG levels (2.38 and 2.95 mmol/L, respectively) and lower commutability. Increased bias percentages from assigned values were observed for RMs with higher TG levels.</p><p><strong>Conclusions: </strong>RMs prepared per CLSI C37-A were commutable with most MP pairs for TC and TG. Elevated TG levels affected HDL-C and LDL-C commutability, highlighting the need to consider TG concentrations during RM preparation and assess commutability to standardize laboratory tests.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144940455","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}