Pub Date : 2025-07-01Epub Date: 2025-06-17DOI: 10.3343/alm.2025.0022
Jeonghyun Chang, Sooin Choi, Hanwool Cho, Sollip Kim, Jae-Woo Chung, Soo Jin Yoo, Eun Young Song, Sail Chun
High-quality specimens are essential for accurate laboratory results. Preanalytical errors due to issues, such as hemolysis, microclotting, and insufficient specimen volume, account for 60%-70% of laboratory errors and frequently result from improper blood collection techniques or negligence during the collection process. Therefore, standardized blood collection guidelines and continuous education are required. In Korea, standardized venous blood collection procedures have not yet been fully established, highlighting the need for an evidence-based protocol tailored to local requirements. The venous blood collection guideline presented here was adapted from international standards to conform to globally recognized practices and address the Korean clinical context. The guideline, developed by the Korean Society for Laboratory Medicine, outlines the critical steps in venous blood collection, from patient identification and consent to post-collection handling. Practical recommendations are provided for medical students, doctors, nurses, and medical technologists. The guideline addresses specific considerations for pediatric and older patients, as well as individuals undergoing blood culture tests, with an emphasis on minimizing errors and promoting the safety of patients and medical staff. The guideline includes practical tools, such as checklists and detailed information on sampling devices, to facilitate implementation. This initiative would help standardize blood collection practices, improve specimen quality, and enhance patient care by ensuring accurate laboratory results in clinical settings.
高质量的标本对准确的实验室结果至关重要。溶血、微凝和标本量不足等问题导致的分析前错误占实验室错误的60%-70%,通常是由于采血技术不当或采血过程中的疏忽造成的。因此,需要标准化的采血指南和持续的教育。在韩国,标准化的静脉血采集程序尚未完全建立,这突出表明需要制定适合当地需求的循证方案。这里提出的静脉血采集指南是根据国际标准改编的,以符合全球公认的做法,并解决韩国的临床情况。该指南由韩国检验医学学会(Korean Society for Laboratory Medicine)制定,概述了静脉血采集的关键步骤,从患者识别和同意到采集后的处理。为医学生、医生、护士和医疗技术人员提供了实用的建议。该指南涉及儿科和老年患者以及接受血培养试验的个人的具体考虑,重点是尽量减少错误并促进患者和医务人员的安全。该指南包括实用工具,如检查清单和采样设备的详细信息,以促进实施。这一举措将有助于标准化血液采集实践,提高标本质量,并通过确保临床环境中准确的实验室结果来加强对患者的护理。
{"title":"Standards and Practice Guidelines for Venous Blood Collection: Consensus Recommendations from the Korean Society for Laboratory Medicine.","authors":"Jeonghyun Chang, Sooin Choi, Hanwool Cho, Sollip Kim, Jae-Woo Chung, Soo Jin Yoo, Eun Young Song, Sail Chun","doi":"10.3343/alm.2025.0022","DOIUrl":"10.3343/alm.2025.0022","url":null,"abstract":"<p><p>High-quality specimens are essential for accurate laboratory results. Preanalytical errors due to issues, such as hemolysis, microclotting, and insufficient specimen volume, account for 60%-70% of laboratory errors and frequently result from improper blood collection techniques or negligence during the collection process. Therefore, standardized blood collection guidelines and continuous education are required. In Korea, standardized venous blood collection procedures have not yet been fully established, highlighting the need for an evidence-based protocol tailored to local requirements. The venous blood collection guideline presented here was adapted from international standards to conform to globally recognized practices and address the Korean clinical context. The guideline, developed by the Korean Society for Laboratory Medicine, outlines the critical steps in venous blood collection, from patient identification and consent to post-collection handling. Practical recommendations are provided for medical students, doctors, nurses, and medical technologists. The guideline addresses specific considerations for pediatric and older patients, as well as individuals undergoing blood culture tests, with an emphasis on minimizing errors and promoting the safety of patients and medical staff. The guideline includes practical tools, such as checklists and detailed information on sampling devices, to facilitate implementation. This initiative would help standardize blood collection practices, improve specimen quality, and enhance patient care by ensuring accurate laboratory results in clinical settings.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"343-357"},"PeriodicalIF":4.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144309486","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}
Pub Date : 2025-07-01Epub Date: 2025-02-12DOI: 10.3343/alm.2024.0448
Anita Siller, Lisa Seekircher, Daniela Schmidt, Lena Tschiderer, Peter Willeit, Harald Schennach, Marco Amato
Background: Measuring residual cells in blood products is legally required for monitoring the manufacturing process and ensuring recipient safety. We compared the accuracy and performance of the two methodologies.
Methods: Residual white blood cells (rWBCs), red blood cells (rRBCs), and platelets (rPLTs) were measured in RBC concentrates (rWBCs), fresh frozen plasma (rWBCs, rRBCs, and rPLTs), and PLT concentrates (rWBCs and rRBCs) using the Sysmex XN-1000 hematology analyzer (Sysmex, Kobe, Japan) equipped with Blood Bank mode and standard flow cytometry (fluorescence-activated cell sorting; FACS).
Results: rWBC counts in RBC concentrates and plasma were similar between XN-1000 and FACS. In pooled pathogen-inactivated PLT concentrates, XN-1000 yielded higher rWBC counts. Correlations between XN-1000 and FACS were moderate for rWBCs (0.42, 95% confidence interval: 0.15-0.69) in RBC inline-filtrated WBC-depleted RBC concentrates. In plasma, correlations were high for rWBC, rRBC, and rPLT counts, with Spearman correlation coefficients of 0.82-0.97. In pathogen-inactivated PLT concentrates, correlations were moderate for rWBCs (0.58, 0.33-0.84) and rRBCs (0.61, 0.35-0.87) in pooled samples but not significant in apheresis-derived samples. Median differences between FACS and XN-1000 were generally low, but XN-1000 overestimated residual cell counts in a subset of measurements. Residual cell cut-off values were surpassed in >90% of RBC concentrates, plasma, and apheresis pathogen-inactivated PLT concentrates using both methods. In pooled pathogen-inactivated PLT concentrates, 91.2% and 70.6% surpassed the cut-off using FACS and XN-1000, respectively.
Conclusions: Sysmex XN-1000 is suitable for residual cell measurements in RBC concentrates and plasma, with some limitations for PLT concentrates.
{"title":"XN-1000 Hematology Analyzer as an Alternative to Flow Cytometry for Measuring Residual Cells in Blood Components.","authors":"Anita Siller, Lisa Seekircher, Daniela Schmidt, Lena Tschiderer, Peter Willeit, Harald Schennach, Marco Amato","doi":"10.3343/alm.2024.0448","DOIUrl":"10.3343/alm.2024.0448","url":null,"abstract":"<p><strong>Background: </strong>Measuring residual cells in blood products is legally required for monitoring the manufacturing process and ensuring recipient safety. We compared the accuracy and performance of the two methodologies.</p><p><strong>Methods: </strong>Residual white blood cells (rWBCs), red blood cells (rRBCs), and platelets (rPLTs) were measured in RBC concentrates (rWBCs), fresh frozen plasma (rWBCs, rRBCs, and rPLTs), and PLT concentrates (rWBCs and rRBCs) using the Sysmex XN-1000 hematology analyzer (Sysmex, Kobe, Japan) equipped with Blood Bank mode and standard flow cytometry (fluorescence-activated cell sorting; FACS).</p><p><strong>Results: </strong>rWBC counts in RBC concentrates and plasma were similar between XN-1000 and FACS. In pooled pathogen-inactivated PLT concentrates, XN-1000 yielded higher rWBC counts. Correlations between XN-1000 and FACS were moderate for rWBCs (0.42, 95% confidence interval: 0.15-0.69) in RBC inline-filtrated WBC-depleted RBC concentrates. In plasma, correlations were high for rWBC, rRBC, and rPLT counts, with Spearman correlation coefficients of 0.82-0.97. In pathogen-inactivated PLT concentrates, correlations were moderate for rWBCs (0.58, 0.33-0.84) and rRBCs (0.61, 0.35-0.87) in pooled samples but not significant in apheresis-derived samples. Median differences between FACS and XN-1000 were generally low, but XN-1000 overestimated residual cell counts in a subset of measurements. Residual cell cut-off values were surpassed in >90% of RBC concentrates, plasma, and apheresis pathogen-inactivated PLT concentrates using both methods. In pooled pathogen-inactivated PLT concentrates, 91.2% and 70.6% surpassed the cut-off using FACS and XN-1000, respectively.</p><p><strong>Conclusions: </strong>Sysmex XN-1000 is suitable for residual cell measurements in RBC concentrates and plasma, with some limitations for PLT concentrates.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"437-449"},"PeriodicalIF":4.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397926","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}
Pub Date : 2025-07-01Epub Date: 2025-04-02DOI: 10.3343/alm.2024.0492
Young-Gon Kim, Sang-Mi Kim, Soo-Youn Lee
Background: Pancreatic cancer (PC)-screening methods have limited accuracy despite their high clinical demand. Differential diagnosis of chronic pancreatitis (CP) poses another challenge for PC diagnosis. Therefore, we aimed to identify blood protein biomarkers for PC diagnosis and differential diagnosis of CP using high-throughput multiplex proteomic analysis.
Methods: Two independent cohorts (N=88 and 80) were included, and residual serum samples were collected from all individuals (N=168). Each cohort consisted of four groups: healthy (H) individuals and those with CP, stage I/II PC (PC1), or stage III/IV PC (PC2). Protein expression in the first cohort was quantified using the Olink Immuno-Oncology and Oncology 3 proximity extension assay (PEA) panels and was analyzed using machine-learning (ML)-based analyses. Samples in the second cohort were utilized to verify candidate biomarkers in immunoassays.
Results: Both the PEA and immunoassay results confirmed that previously recognized biomarkers, such as the mucin-16 and interleukin-6 proteins, were more highly expressed in the PC (PC1 and PC2) groups than in the non-PC (CP and H) groups. Several novel biomarkers for PC diagnosis were identified via ML-based feature extraction, including C1QA and CDHR2, whereas pro-neuropeptide Y (NPY) appeared to be a promising biomarker for the differential diagnosis of CP. Applying XGBoost classification incorporating the selected features resulted in an area under the curve of 0.92 (0.85-0.98) for differentiating the PC group from the CP and H groups.
Conclusions: Promising blood biomarkers for PC diagnosis and differential diagnosis of CP were identified using a PEA platform and ML techniques.
{"title":"Pancreatic Cancer Detection and Differentiation from Chronic Pancreatitis: Potential Biomarkers Identified through a High-Throughput Multiplex Proteomic Assay and Machine Learning-Based Analysis.","authors":"Young-Gon Kim, Sang-Mi Kim, Soo-Youn Lee","doi":"10.3343/alm.2024.0492","DOIUrl":"10.3343/alm.2024.0492","url":null,"abstract":"<p><strong>Background: </strong>Pancreatic cancer (PC)-screening methods have limited accuracy despite their high clinical demand. Differential diagnosis of chronic pancreatitis (CP) poses another challenge for PC diagnosis. Therefore, we aimed to identify blood protein biomarkers for PC diagnosis and differential diagnosis of CP using high-throughput multiplex proteomic analysis.</p><p><strong>Methods: </strong>Two independent cohorts (N=88 and 80) were included, and residual serum samples were collected from all individuals (N=168). Each cohort consisted of four groups: healthy (H) individuals and those with CP, stage I/II PC (PC1), or stage III/IV PC (PC2). Protein expression in the first cohort was quantified using the Olink Immuno-Oncology and Oncology 3 proximity extension assay (PEA) panels and was analyzed using machine-learning (ML)-based analyses. Samples in the second cohort were utilized to verify candidate biomarkers in immunoassays.</p><p><strong>Results: </strong>Both the PEA and immunoassay results confirmed that previously recognized biomarkers, such as the mucin-16 and interleukin-6 proteins, were more highly expressed in the PC (PC1 and PC2) groups than in the non-PC (CP and H) groups. Several novel biomarkers for PC diagnosis were identified via ML-based feature extraction, including C1QA and CDHR2, whereas pro-neuropeptide Y (NPY) appeared to be a promising biomarker for the differential diagnosis of CP. Applying XGBoost classification incorporating the selected features resulted in an area under the curve of 0.92 (0.85-0.98) for differentiating the PC group from the CP and H groups.</p><p><strong>Conclusions: </strong>Promising blood biomarkers for PC diagnosis and differential diagnosis of CP were identified using a PEA platform and ML techniques.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"399-409"},"PeriodicalIF":4.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763014","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}
Woo Jin Shin,Yoo Jin Kang,Aram Kim,Jeong-Ok Lee,Sang Mee Hwang
Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The MYD88 L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect MYD88 L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. MYD88 L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (P <0.001 and P =0.003, respectively), serum lactate dehydrogenase level (P =0.045), and platelet count (P =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher MYD88 L265P copies/μL than patients in very low and low groups (P =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (P =0.034). MYD88 L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.
{"title":"MYD88 L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker.","authors":"Woo Jin Shin,Yoo Jin Kang,Aram Kim,Jeong-Ok Lee,Sang Mee Hwang","doi":"10.3343/alm.2024.0644","DOIUrl":"https://doi.org/10.3343/alm.2024.0644","url":null,"abstract":"Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The MYD88 L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect MYD88 L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. MYD88 L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (P <0.001 and P =0.003, respectively), serum lactate dehydrogenase level (P =0.045), and platelet count (P =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher MYD88 L265P copies/μL than patients in very low and low groups (P =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (P =0.034). MYD88 L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"46 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144504584","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}
Woo Jin Shin, Yoo Jin Kang, Aram Kim, Jeong-Ok Lee, Sang Mee Hwang
Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The MYD88 L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect MYD88 L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. MYD88 L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (P <0.001 and P =0.003, respectively), serum lactate dehydrogenase level (P =0.045), and platelet count (P =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher MYD88 L265P copies/μL than patients in very low and low groups (P =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (P =0.034). MYD88 L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.
{"title":"<i>MYD88</i> L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker.","authors":"Woo Jin Shin, Yoo Jin Kang, Aram Kim, Jeong-Ok Lee, Sang Mee Hwang","doi":"10.3343/alm.2024.0644","DOIUrl":"https://doi.org/10.3343/alm.2024.0644","url":null,"abstract":"<p><p>Waldenström macroglobulinemia (WM) is a B-cell lymphoproliferative disease characterized by IgM monoclonal gammopathy and bone marrow (BM) infiltration caused by lymphoplasmacytic lymphoma. The <i>MYD88</i> L265P variant is present in >90% of WM cases. We used droplet digital PCR (ddPCR) to detect <i>MYD88</i> L265P in initial BM samples from 15 patients with WM and assessed the implication of variant burden as a tumor load and prognostic marker. <i>MYD88</i> L265P burden correlated with clinical indicators, including peripheral blood and BM lymphocyte percentages (<i>P</i> <0.001 and <i>P</i> =0.003, respectively), serum lactate dehydrogenase level (<i>P</i> =0.045), and platelet count (<i>P</i> =0.003). Patients classified into intermediate and high groups according to the Revised International Prognostic Score System for WM had higher <i>MYD88</i> L265P copies/μL than patients in very low and low groups (<i>P</i> =0.017), as had patients with minor response or stable disease after primary treatment than those with complete, partial, or very good partial response (<i>P</i> =0.034). <i>MYD88</i> L265P burden correlates well with multiple clinical indicators and has prognostic relevance, making it a potential marker for assessing tumor burden and predicting prognosis in WM.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144504686","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}
Mi-Ae Jang,Won Young Heo,Jong Kwon Lee,Jong-Won Kim,Sang-Mi Kim,Ja-Hyun Jang,Hyung-Doo Park
BackgroundCitrin deficiency is an autosomal recessive disorder caused by pathogenic variants in SLC25A13, presenting with various age-dependent clinical phenotypes and a broad spectrum of severity. However, few studies have examined the frequency and prevalence of citrin deficiency. We aimed to analyze the carrier frequency and disease prevalence in East Asian populations and Koreans.MethodsWe comprehensively reviewed the literature and conducted a cross-sectional study to analyze genomic databases, including the Genome Aggregation Database (gnomAD), Korean Variant Archive (KOVA), and Tohoku Medical Megabank Organization (ToMMo), to identify pathogenic SLC25A13 variants in East Asian populations. A founder 3-kilobase (kb) insertion in intron 16 of SLC25A13 was investigated using whole-genome sequencing data from 681 Koreans with the Linux grep command.ResultsTwenty-three pathogenic SLC25A13 variants were identified, with c.852_855del being the most common. Analysis of data from 17,501 East Asian individuals in the gnomAD and ToMMo databases revealed a carrier frequency of 1 in 62 people. Analysis of data from 7,214 individuals in the gnomAD and KOVA databases revealed a carrier frequency of 1 in 86, corresponding to an estimated disease prevalence of 1 in 29,502. c.1177+1G>A was identified as the most prevalent pathogenic variant in Koreans. The 3 kb insertion in intron 16 was detected in three out of 681 individuals, indicating a carrier frequency of 1 in 228.ConclusionsThe high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.
{"title":"Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.","authors":"Mi-Ae Jang,Won Young Heo,Jong Kwon Lee,Jong-Won Kim,Sang-Mi Kim,Ja-Hyun Jang,Hyung-Doo Park","doi":"10.3343/alm.2024.0631","DOIUrl":"https://doi.org/10.3343/alm.2024.0631","url":null,"abstract":"BackgroundCitrin deficiency is an autosomal recessive disorder caused by pathogenic variants in SLC25A13, presenting with various age-dependent clinical phenotypes and a broad spectrum of severity. However, few studies have examined the frequency and prevalence of citrin deficiency. We aimed to analyze the carrier frequency and disease prevalence in East Asian populations and Koreans.MethodsWe comprehensively reviewed the literature and conducted a cross-sectional study to analyze genomic databases, including the Genome Aggregation Database (gnomAD), Korean Variant Archive (KOVA), and Tohoku Medical Megabank Organization (ToMMo), to identify pathogenic SLC25A13 variants in East Asian populations. A founder 3-kilobase (kb) insertion in intron 16 of SLC25A13 was investigated using whole-genome sequencing data from 681 Koreans with the Linux grep command.ResultsTwenty-three pathogenic SLC25A13 variants were identified, with c.852_855del being the most common. Analysis of data from 17,501 East Asian individuals in the gnomAD and ToMMo databases revealed a carrier frequency of 1 in 62 people. Analysis of data from 7,214 individuals in the gnomAD and KOVA databases revealed a carrier frequency of 1 in 86, corresponding to an estimated disease prevalence of 1 in 29,502. c.1177+1G>A was identified as the most prevalent pathogenic variant in Koreans. The 3 kb insertion in intron 16 was detected in three out of 681 individuals, indicating a carrier frequency of 1 in 228.ConclusionsThe high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"45 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144370365","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}
Jing Jin,Xueqi Zhang,Songwen Wang,Zhongyan Shan,Weiping Teng,Xiaochun Teng
{"title":"Falsely Elevated Thyroid-Stimulating Hormone Level Due to Macro-TSH Interference: A Case Report.","authors":"Jing Jin,Xueqi Zhang,Songwen Wang,Zhongyan Shan,Weiping Teng,Xiaochun Teng","doi":"10.3343/alm.2025.0006","DOIUrl":"https://doi.org/10.3343/alm.2025.0006","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"44 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319868","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}
Chronic kidney disease (CKD) is a major non-communicable disease and a leading cause of mortality worldwide. With the increasing prevalence of risk factors such as diabetes mellitus, obesity, and hypertension in the 21st century, CKD currently affects over 10% of the global population. The clinical and economic burden of this widespread disease is projected to continue to rise worldwide. Early detection, treatment, and monitoring of this progressive condition through accurate clinical laboratory testing of CKD biomarkers are paramount to mitigate this growing healthcare challenge. The development of reference materials (RMs) and reference measurement procedures (RMPs) for these clinical analytes is pivotal to ensuring accurate measurements using in vitro diagnostics. In this review, we emphasize the importance of establishing RMs and RMPs to standardize the measurements of key clinical markers for CKD, i.e., urine and serum creatinine, urine albumin, serum cystatin C, and urea. Standardizing CKD biomarker measurements based on RMs and RMPs can help support global efforts to reduce CKD-related morbidity and healthcare costs by ensuring reliable diagnostic practices.
{"title":"Advancing Accuracy in Chronic Kidney Disease Diagnosis and Management: Reference Materials and Reference Measurement Procedures for Clinical Markers.","authors":"Hwee Tong Tan,Qinde Liu,Tang Lin Teo","doi":"10.3343/alm.2024.0583","DOIUrl":"https://doi.org/10.3343/alm.2024.0583","url":null,"abstract":"Chronic kidney disease (CKD) is a major non-communicable disease and a leading cause of mortality worldwide. With the increasing prevalence of risk factors such as diabetes mellitus, obesity, and hypertension in the 21st century, CKD currently affects over 10% of the global population. The clinical and economic burden of this widespread disease is projected to continue to rise worldwide. Early detection, treatment, and monitoring of this progressive condition through accurate clinical laboratory testing of CKD biomarkers are paramount to mitigate this growing healthcare challenge. The development of reference materials (RMs) and reference measurement procedures (RMPs) for these clinical analytes is pivotal to ensuring accurate measurements using in vitro diagnostics. In this review, we emphasize the importance of establishing RMs and RMPs to standardize the measurements of key clinical markers for CKD, i.e., urine and serum creatinine, urine albumin, serum cystatin C, and urea. Standardizing CKD biomarker measurements based on RMs and RMPs can help support global efforts to reduce CKD-related morbidity and healthcare costs by ensuring reliable diagnostic practices.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"43 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311416","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}
Neurological disorders, including neurodegenerative diseases, traumatic brain injuries (TBI), and central nervous system (CNS) tumors, are complex conditions that significantly impact patients globally. Timely diagnosis and monitoring are critical for improving outcomes, driving the need for reliable biomarkers. Specifically, biomarkers detectable in cerebrospinal fluid (CSF) and blood offer important insights into disease presence and progression. This review explores the evolution of circulating blood biomarkers for neurodegenerative diseases, TBI, and CNS tumors, highlighting advanced detection technologies from enzyme-linked immunosorbent assays (ELISAs) to electrochemiluminescence (ECL) assays, single-molecule arrays (Simoa), and mass spectrometry. Advanced technologies with enhanced sensitivity and specificity, particularly in detecting low-abundance analytes, facilitate the investigation of CSF biomarkers for various neurological disorders. We also describe the progress in blood-based biomarkers for , emerging as less invasive alternatives to CSF sampling. Clinically, the implementation of Alzheimer's disease (AD) blood biomarkers Aβ42/Aβ40 ratio and Apolipoprotein E isoform-specific peptide can aid the diagnosis, while p-tau181 and p-tau217 differentiates AD dementia from non-AD neurodegenerative diseases. Blood glial fibrillary acidic protein and ubiquitin C-terminal hydrolase-L1 are used in ruling out mild TBI. Despite these innovations, challenges remain, including assay standardization, sensitivity/specificity trade-offs, and the requirement for longitudinal studies to understand biomarker utility over time. Future research should focus on addressing these challenges to fully realize the potential of blood-based biomarkers in neurological disorder diagnostics and patient care.
{"title":"Advances in Circulating Biomarkers for Neurodegenerative Diseases, Traumatic Brain Injuries, and Central Nervous System Tumors.","authors":"Ming Yang,Allison Zhang,Meng Chen,Jing Cao","doi":"10.3343/alm.2024.0611","DOIUrl":"https://doi.org/10.3343/alm.2024.0611","url":null,"abstract":"Neurological disorders, including neurodegenerative diseases, traumatic brain injuries (TBI), and central nervous system (CNS) tumors, are complex conditions that significantly impact patients globally. Timely diagnosis and monitoring are critical for improving outcomes, driving the need for reliable biomarkers. Specifically, biomarkers detectable in cerebrospinal fluid (CSF) and blood offer important insights into disease presence and progression. This review explores the evolution of circulating blood biomarkers for neurodegenerative diseases, TBI, and CNS tumors, highlighting advanced detection technologies from enzyme-linked immunosorbent assays (ELISAs) to electrochemiluminescence (ECL) assays, single-molecule arrays (Simoa), and mass spectrometry. Advanced technologies with enhanced sensitivity and specificity, particularly in detecting low-abundance analytes, facilitate the investigation of CSF biomarkers for various neurological disorders. We also describe the progress in blood-based biomarkers for , emerging as less invasive alternatives to CSF sampling. Clinically, the implementation of Alzheimer's disease (AD) blood biomarkers Aβ42/Aβ40 ratio and Apolipoprotein E isoform-specific peptide can aid the diagnosis, while p-tau181 and p-tau217 differentiates AD dementia from non-AD neurodegenerative diseases. Blood glial fibrillary acidic protein and ubiquitin C-terminal hydrolase-L1 are used in ruling out mild TBI. Despite these innovations, challenges remain, including assay standardization, sensitivity/specificity trade-offs, and the requirement for longitudinal studies to understand biomarker utility over time. Future research should focus on addressing these challenges to fully realize the potential of blood-based biomarkers in neurological disorder diagnostics and patient care.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"23 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311422","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}
Hyoeun Shim,Soobeen Heo,Jiyu Sun,Moon Ki Choi,Sung Chan Park,Chang Won Hong,Seong Hoon Kim,Seog-Yun Park,Sun-Young Kong,Ji Yeon Baek
BackgroundCirculating tumor DNA (ctDNA) profiling from peripheral blood allows relatively noninvasive monitoring of solid tumors; however, its utility post-surgery or chemotherapy in colorectal cancer remains underexplored. We evaluated the clinical implications of a ctDNA next-generation sequencing (NGS) panel post-surgery or chemotherapy in patients with colorectal cancer.MethodsWe collected samples from 23 patients with colorectal cancer (17 men, median age 65 yrs) at baseline and post-surgery or chemotherapy at the National Cancer Center, Korea, between January 2021 and September 2023. ctDNA was analyzed using an NGS panel including 46 genes, and variant allele frequencies (VAFs) were determined. Follow-up samples were analyzed using the NGS panel or droplet digital PCR (ddPCR) when probes were available. Clinical status was compared with ctDNA results, and survival was analyzed using a time-dependent Cox model.ResultsMutations were identified in 13 out of 14 patients (92.8%) with stage II/III cancer and in all nine patients (100%) with stage IV cancer. Mutations were detected in KRAS (N=15, 65%), APC (N=8, 35%), TP53 (N=7, 30%), PIK3CA (N=5, 22%), and RET (N=4, 17%). A 1% increase in KRAS and TP53 VAFs was associated with 48% and 32% increased mortality risk, respectively. Changes in VAF correlated well with clinical findings.ConclusionsThe detection of and an increase in KRAS and TP53 VAFs were associated with poor prognosis. ddPCR-based ctDNA monitoring results were comparable to those obtained with the NGS panel. ctDNA monitoring during treatment is clinically informative in managing colorectal cancer.
{"title":"Clinical Utility of Monitoring Circulating Tumor DNA Using a Targeted Next-generation Sequencing Panel in Patients with Colorectal Cancer.","authors":"Hyoeun Shim,Soobeen Heo,Jiyu Sun,Moon Ki Choi,Sung Chan Park,Chang Won Hong,Seong Hoon Kim,Seog-Yun Park,Sun-Young Kong,Ji Yeon Baek","doi":"10.3343/alm.2024.0598","DOIUrl":"https://doi.org/10.3343/alm.2024.0598","url":null,"abstract":"BackgroundCirculating tumor DNA (ctDNA) profiling from peripheral blood allows relatively noninvasive monitoring of solid tumors; however, its utility post-surgery or chemotherapy in colorectal cancer remains underexplored. We evaluated the clinical implications of a ctDNA next-generation sequencing (NGS) panel post-surgery or chemotherapy in patients with colorectal cancer.MethodsWe collected samples from 23 patients with colorectal cancer (17 men, median age 65 yrs) at baseline and post-surgery or chemotherapy at the National Cancer Center, Korea, between January 2021 and September 2023. ctDNA was analyzed using an NGS panel including 46 genes, and variant allele frequencies (VAFs) were determined. Follow-up samples were analyzed using the NGS panel or droplet digital PCR (ddPCR) when probes were available. Clinical status was compared with ctDNA results, and survival was analyzed using a time-dependent Cox model.ResultsMutations were identified in 13 out of 14 patients (92.8%) with stage II/III cancer and in all nine patients (100%) with stage IV cancer. Mutations were detected in KRAS (N=15, 65%), APC (N=8, 35%), TP53 (N=7, 30%), PIK3CA (N=5, 22%), and RET (N=4, 17%). A 1% increase in KRAS and TP53 VAFs was associated with 48% and 32% increased mortality risk, respectively. Changes in VAF correlated well with clinical findings.ConclusionsThe detection of and an increase in KRAS and TP53 VAFs were associated with poor prognosis. ddPCR-based ctDNA monitoring results were comparable to those obtained with the NGS panel. ctDNA monitoring during treatment is clinically informative in managing colorectal cancer.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"12 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311425","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}