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.
{"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}
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.
{"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}
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
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.
{"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}
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
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.
{"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}
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.
{"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}
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.
{"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}
Gahee Kim, Ki Wook Yun, Dayun Kang, Taek Jin Lee, Byung Wook Eun, Hyunju Lee, Yae-Jean Kim, Doo Ri Kim, Areum Shin, Hyun Mi Kang, Ye Ji Kim, Byung Ok Kwak, Younghee Lee, Ye Kyung Kim, Young June Choe, Woosuck Suh, Kyo Jin Jo, Kyung-Ran Kim, Eun Young Cho, Kyung Min Kim, Joon Kee Lee, Su Eun Park
Background: Mycoplasma pneumoniae is a major cause of community-acquired pneumonia (CAP) in children, with a rising incidence of macrolide resistance. Early diagnosis is crucial for reducing the disease burden; however, current diagnostic tools have limitations. We evaluated the diagnostic accuracy of serological assays and their performance based on symptom onset in children with CAP.
Methods: From September 2023 to September 2024, we prospectively enrolled children with CAP, classified as M. pneumoniae pneumonia (MPP) or non-MPP, from 16 hospitals in Korea. Serological testing included chemiluminescence immunoassay (CLIA) and ELISA for detecting IgM and IgG, along with particle agglutination (PA) for total antibody measurements. Serological responses were analyzed at different times after symptom onset (0-4, 5-9, and 10-21 days).
Results: Among 472 children with CAP (362 MPP, 110 non-MPP), 138 (29.2%) underwent PA testing, and 334 (70.8%) underwent IgM testing. PA at a 1:640 cutoff showed 48.0% sensitivity and 100% specificity. CLIA and ELISA showed comparable sensitivities (69.1% vs. 69.2%) and specificities (76.9% vs. 66.7%) for IgM testing. Seropositivity increased significantly with time since symptom onset (P for trend<0.001), reaching 97.9% for IgM, 62.5% for IgG, and 94.7% for PA at 10-21 days.
Conclusions: The time post-symptom onset significantly influenced the diagnostic utility of serological tests for pediatric MPP, which showed limited value during the early stage of illness. These findings emphasize the importance of symptom onset-based interpretation of serological test results and their utility in complementing PCR when optimizing MPP diagnosis in children.
背景：肺炎支原体是儿童社区获得性肺炎（CAP）的主要原因，大环内酯类药物耐药性的发生率不断上升。早期诊断对于减轻疾病负担至关重要；然而，目前的诊断工具有局限性。我们评估了血清学检测的诊断准确性及其基于症状发作的表现。方法：从2023年9月到2024年9月，我们前瞻性地招募了韩国16家医院的CAP患儿，分类为肺炎支气管炎肺炎（MPP）或非MPP。血清学检测包括化学发光免疫分析法（CLIA）和ELISA检测IgM和IgG，以及颗粒凝集法（PA）检测总抗体。在症状出现后的不同时间（0-4、5-9和10-21天）分析血清学反应。结果：在472例CAP患儿中（MPP患儿362例，非MPP患儿110例），138例（29.2%）接受了PA检测，334例（70.8%）接受了IgM检测。在1:640的截止值下，PA的敏感性为48.0%，特异性为100%。CLIA和ELISA检测IgM的敏感性（69.1% vs. 69.2%）和特异性（76.9% vs. 66.7%）相当。结论：症状出现后的时间显著影响小儿MPP血清学检测的诊断效用，在疾病早期的诊断价值有限。这些发现强调了基于症状发作的血清学检测结果解释的重要性，以及它们在优化儿童MPP诊断时补充PCR的实用性。
{"title":"Diagnostic Accuracy of Serological Tests for <i>Mycoplasma pneumoniae</i> Infections in Children with Pneumonia, Based on Symptom Onset.","authors":"Gahee Kim, Ki Wook Yun, Dayun Kang, Taek Jin Lee, Byung Wook Eun, Hyunju Lee, Yae-Jean Kim, Doo Ri Kim, Areum Shin, Hyun Mi Kang, Ye Ji Kim, Byung Ok Kwak, Younghee Lee, Ye Kyung Kim, Young June Choe, Woosuck Suh, Kyo Jin Jo, Kyung-Ran Kim, Eun Young Cho, Kyung Min Kim, Joon Kee Lee, Su Eun Park","doi":"10.3343/alm.2025.0125","DOIUrl":"10.3343/alm.2025.0125","url":null,"abstract":"<p><strong>Background: </strong><i>Mycoplasma pneumoniae</i> is a major cause of community-acquired pneumonia (CAP) in children, with a rising incidence of macrolide resistance. Early diagnosis is crucial for reducing the disease burden; however, current diagnostic tools have limitations. We evaluated the diagnostic accuracy of serological assays and their performance based on symptom onset in children with CAP.</p><p><strong>Methods: </strong>From September 2023 to September 2024, we prospectively enrolled children with CAP, classified as <i>M. pneumoniae</i> pneumonia (MPP) or non-MPP, from 16 hospitals in Korea. Serological testing included chemiluminescence immunoassay (CLIA) and ELISA for detecting IgM and IgG, along with particle agglutination (PA) for total antibody measurements. Serological responses were analyzed at different times after symptom onset (0-4, 5-9, and 10-21 days).</p><p><strong>Results: </strong>Among 472 children with CAP (362 MPP, 110 non-MPP), 138 (29.2%) underwent PA testing, and 334 (70.8%) underwent IgM testing. PA at a 1:640 cutoff showed 48.0% sensitivity and 100% specificity. CLIA and ELISA showed comparable sensitivities (69.1% vs. 69.2%) and specificities (76.9% vs. 66.7%) for IgM testing. Seropositivity increased significantly with time since symptom onset (<i>P</i> for trend<0.001), reaching 97.9% for IgM, 62.5% for IgG, and 94.7% for PA at 10-21 days.</p><p><strong>Conclusions: </strong>The time post-symptom onset significantly influenced the diagnostic utility of serological tests for pediatric MPP, which showed limited value during the early stage of illness. These findings emphasize the importance of symptom onset-based interpretation of serological test results and their utility in complementing PCR when optimizing MPP diagnosis in children.</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":"144940403","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}
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