Annals of Laboratory Medicine最新文献

{"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}

{"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}

{"title":"Considerations of Flow Cytometric Lymphocyte Subset Analysis in Korea Based on a Survey of Current Clinical Laboratory Practice.","authors":"Mikyoung Park, Hyun-Woo Choi, Jihyang Lim, Kyung-Hwa Shin, Eun-Jee Oh, Jaewoo Song, Kyeong-Hee Kim, In Hwa Jeong, Joo-Heon Park, Sang-Hyun Hwang, Eun-Suk Kang","doi":"10.3343/alm.2025.0064","DOIUrl":"https://doi.org/10.3343/alm.2025.0064","url":null,"abstract":"<p><p>Flow cytometric lymphocyte subset analysis (FCLSA) is essential for assessing immune status across various diseases and clinical settings. We surveyed current clinical laboratory practices related to FCLSA to establish a baseline reference for future standardization in Korea. Nine university hospitals actively performing FCLSA responded to the 22-question survey, which covered seven categories of laboratory practice. These hospitals used commercial reagent antibody kits from either Beckton Dickinson Biosciences (N=4) or Beckman Coulter Diagnostics (N=5). Most hospitals performed daily instrument setup and scheduled maintenance every 2-6 months. Two levels of commercial quality control materials were routinely used each day. Sample and reagent antibody volumes varied across hospitals, even when the same reagent kit was used. Acquired cell counts ranged from 5×10³ to 5×10⁴ cells, with two hospitals adjusting counts based on the cell type analyzed. Most laboratories reported percentages and general opinions; some additionally reported white blood cell and lymphocyte counts, along with lymphocyte percentages. This is the first comprehensive survey on the clinical laboratory practice of FCLSA in Korea. Standardization of FCLSA should be accelerated to ensure reliable and reproducible results.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144214715","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":"Performance Evaluation of the 2020 European Society of Cardiology 0-hour/1-hour Algorithm Using High-sensitivity Cardiac Troponin I for Non-ST-segment Elevation Acute Coronary Syndrome and Mortality Assessment Based on 1-year Real-world Data","authors":"Changhee Ha, Yeon Jae Lee, Jong Do Seo, Hanah Kim, Hee-Won Moon, Mina Hur, Young Hwan Lee, Sang O Park, Kyeong Ryong Lee, Hyun-Joong Kim, Yeo-Min Yun","doi":"10.3343/alm.2025.0017","DOIUrl":"10.3343/alm.2025.0017","url":null,"abstract":"<p><strong>Background: </strong>The 2020 European Society of Cardiology (ESC) 0-hr/1-hr algorithm using high-sensitivity cardiac troponin I (hs-cTnI) for non-ST-segment elevation acute coronary syndrome (NSTE-ACS) aims at early diagnosis and shorter emergency department (ED) stays. While this algorithm has been well-established in controlled studies, real-world implementation remains challenging. We evaluated the algorithm's clinical performance and risk stratification capability in patients with chest pain or discomfort.</p><p><strong>Methods: </strong>We measured hs-cTnI in 4,678 patients suspected of NSTE-ACS between August 2022 and July 2023, using an Atellica IM Analyzer (Siemens Healthineers, Erlangen, Germany). We categorized patients into rule-in, observe, or rule-out groups according to the algorithm and assessed its diagnostic performance for NSTE-ACS. The final diagnosis of NSTE-ACS was adjudicated by two independent physicians. Additionally, we evaluated 30-day all-cause mortality, hazard risk, and ED length of stay across the three groups.</p><p><strong>Results: </strong>The algorithm categorized 3,408 (72.9%), 573 (12.2%), and 697 (14.9%) patients into the rule-out, observe, and rule-in groups, respectively. Among 90 patients diagnosed as having NSTE-ACS, none were falsely categorized into the rule-out group. Survival analysis revealed significant differences (<i>P</i> <0.001), with Cox hazard ratios of 2.38 (95% confidence interval: 1.20-4.71) and 6.39 (3.45-11.86) in the observe and rule-in groups, respectively. ED stays shortened in the order of rule-out, observe, and rule-in groups (<i>P</i> <0.001).</p><p><strong>Conclusions: </strong>The 2020 ESC 0-hr/1-hr algorithm demonstrates excellent diagnostic accuracy without false rule-outs and effective risk stratification, and contributes to efficient ED throughput, supporting its clinical utility in real-world emergency settings.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144214716","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":"Chromosomal Rearrangements in 1,787 Cases of Acute Leukemia in Korea over 15 years.","authors":"DongGeun Son,Ho Cheol Jang,Young Eun Lee,Yong Jun Choi,Joo Heon Park,Ha Jin Lim,Hyun-Jung Choi,Hee Jo Baek,Hoon Kook,Mihee Kim,Ga-Young Song,Seo-Yeon Ahn,Sung-Hoon Jung,Deok-Hwan Yang,Je-Jung Lee,Hyeonug-Joon Kim,Jae-Sook Ahn,Myung-Geun Shin","doi":"10.3343/alm.2024.0570","DOIUrl":"https://doi.org/10.3343/alm.2024.0570","url":null,"abstract":"BackgroundChromosomal alterations serve as diagnostic and prognostic markers in acute leukemia. Given the evolving landscape of chromosomal abnormalities in acute leukemia, we previously studied these over two periods. In this study, we investigated the frequency of these abnormalities and clinical trends in acute leukemia in Korea across three time periods.MethodsWe retrospectively analyzed data from 1,787 patients with acute leukemia (319 children and 1,468 adults) diagnosed between 2006 and 2020. Conventional cytogenetics, FISH, and multiplex quantitative PCR were used for analysis. The patient groups were divided according to the following three study periods: 2006-2009 (I), 2010-2015 (II), and 2016-2020 (III).ResultsChromosomal aberrations were detected in 92% of patients. The PML::RARA translocation was the most frequent. Over the 15-yr period, chromosomal aberrations showed minimal changes, with specific fusion transcripts being common among patients. ALL was more prevalent in children than in adults and correlated significantly with the ETV6::RUNX1 and RUNX1::RUNX1T1 aberrations. The incidence of ALL increased during the three periods, with PML::RARA remaining common.ConclusionsThe frequency of chromosomal abnormalities in acute leukemia has changed subtly over time. Notably, the age of onset of adult AML has continuously increased. Our results may help in establishing diagnoses and clinical treatment strategies and developing various molecular diagnostic platforms.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"76 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932875","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":"Diagnostic Performance of Eight Blood-based Biomarkers in a Well-characterized Korean Cohort of Preclinical Alzheimer's Disease.","authors":"Hyojin Chae,Hyejeong Kim,Yoon-Joo Kim,HyunYoung Ji,Eun-Jee Oh,Dong Won Yang","doi":"10.3343/alm.2024.0498","DOIUrl":"https://doi.org/10.3343/alm.2024.0498","url":null,"abstract":"BackgroundWith the introduction of disease-modifying treatments for Alzheimer's disease (AD), less invasive and widely accessible screening tests are urgently needed. We assessed eight blood-based biomarkers in a well-defined cohort of preclinical AD, including participants with subjective cognitive decline (SCD) and mild cognitive impairment (MCI).MethodsAmyloid beta (Aβ) oligomerization tendency, Aβ42, Aβ40, Aβ42/Aβ40 ratio, phosphorylated tau (p-tau)181, p-tau217, glial fibrillary acidic protein (GFAP), and neurofilament light (Nf-L) were assessed for distinguishing between SCD and MCI, for correlations, and for predicting Aβ positron emission tomography (PET) positivity.ResultsPlasma p-tau181, p-tau217, and GFAP levels were significantly higher in participants with MCI than in those with SCD (P <0.05) and in Aβ PET-positive versus Aβ PET-negative participants (P <0.0001), whereas plasma Aβ42 and Aβ42/40 ratio levels were significantly lower in Aβ PET-positive than in Aβ PET-negative participants (P <0.001). Logistic regression analysis revealed that plasma Aβ42 and p-tau217 levels predicted Aβ PET positivity with an area under the ROC curve (AUC) of 0.930 (95% confidence interval [CI], 0.848-0.976) in the entire cohort, and p-tau217 alone predicted Aβ PET-positivity with an AUC of 0.887 (95% CI, 0.779-0.954) in the MCI subgroup.ConclusionsPlasma p-tau217 levels outperform plasma p-tau181 levels in predicting Aβ PET-positivity in participants with preclinical AD. Plasma GFAP levels, along with different p-tau isoforms (p-tau181 and p-tau217), effectively differentiate MCI from SCD. The predictive accuracy of blood-based biomarkers for Aβ PET-positivity strongly supports their clinical implementation, particularly with the introduction of disease-modifying therapies.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"37 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143933000","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":"Increase in Sapovirus Infection in Korea After the COVID-19 Pandemic: A Six-and-a-half-year Retrospective Study.","authors":"Su-Kyung Lee,You La Jeon,Eun-Jung Cho,Han-Sung Kim,Jae-Seok Kim,Wonkeun Song,Hyun Soo Kim","doi":"10.3343/alm.2024.0458","DOIUrl":"https://doi.org/10.3343/alm.2024.0458","url":null,"abstract":"BackgroundSapovirus is an increasingly recognized cause of acute gastroenteritis (AGE). Despite its significance, data on sapovirus epidemiology and genetic diversity in Korea are limited. Therefore, we examined sapovirus positivity rates over a 6.5-yr period and analyzed the genetic diversity of strains detected in 2022 in Korea.MethodsWe retrospectively analyzed 204,563 sapovirus multiplex PCR test results from suspected AGE cases collected between 2017 and 2023 at two institutions. Monthly and age-specific positive rates were evaluated. Forty sapovirus-positive samples from 2022 were genotyped using reverse transcription PCR and sequencing. The sequences were compared with those in the National Center for Biotechnology Information Virus database, and a phylogenetic tree was constructed to assess genetic relationships among sapovirus strains.ResultsThe overall sapovirus positivity rate from 2017 to 2023 was 2.2%, with an increasing trend in summer and autumn, except during the coronavirus disease 2019 (COVID-19) pandemic in 2020 and 2021, when sapovirus was rarely detected. Positivity markedly increased in the summer and autumn of 2022 and 2023 following the COVID-19 pandemic. The predominant genotypes in 2022 were GI.1 and GII.3. Phylogenetic analysis revealed genetic diversity among circulating strains.ConclusionsThis study highlights the rising incidence of sapovirus in Korea, particularly after the COVID-19 pandemic. Despite focusing on genotyping data from a single year, these findings emphasize the need for ongoing surveillance to monitor sapovirus evolution and its public health impact. Additionally, our findings provide essential baseline data for future research into the epidemiology and genetics of sapovirus.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"10 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143921095","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":"Clinical Implications of Circulating Tumor DNA in Multiple Myeloma and Its Precursor Diseases.","authors":"Sung-Soo Park, Na Yung Kim, Ji-Young Lim, Jung Yeon Lee, Sujin Yun, Yeun-Jun Chung, Seung-Hyun Jung, Chang-Ki Min","doi":"10.3343/alm.2024.0424","DOIUrl":"10.3343/alm.2024.0424","url":null,"abstract":"<p><strong>Background: </strong>Genetic alterations play a pivotal role in multiple myeloma (MM) development and therapeutic resistance. Traditionally, the genetic profiling of MM requires invasive bone marrow (BM) procedures; however, these procedures are associated with patient discomfort and cannot fully capture the spatial and temporal heterogeneity of the disease. Therefore, we investigated the clinical implications of liquid biopsy using targeted deep sequencing.</p><p><strong>Methods: </strong>We analyzed the genetic profiles of circulating tumor DNA (ctDNA) by targeted deep sequencing from 102 patients, including those with monoclonal gammopathy of undetermined significance (MGUS, N=7), smoldering MM (N=6), and symptomatic MM (N=89).</p><p><strong>Results: </strong>The number of ctDNA mutations increased with disease progression from MGUS to MM, with averages of 1.0 mutations in MGUS, 1.8 mutations in smoldering MM, and 1.9 mutations in MM, respectively. Shared mutations between BM and ctDNA were more prevalent in MM (68.9%) than in MGUS (25.0%). RAS/RAF and <i>TP53</i> mutations were significantly enriched in MM ctDNA. Specific mutations were associated with clinical features in patients with MM: hypercalcemia and <i>TET2</i> (<i>P</i> =0.006), renal insufficiency and <i>NRAS</i> (<i>P</i> =0.012), paramedullary myeloma and <i>TP53</i> (<i>P</i> =0.02), and extramedullary myeloma and NRAS (<i>P</i> =0.007). <i>TET2</i> mutations significantly affected 2-yr progression-free survival (hazard ratio=7.11, <i>P</i> =0.003). Serial ctDNA profiling accurately predicted treatment response in patients with MM.</p><p><strong>Conclusions: </strong>Our findings highlight the potential of liquid biopsy for understanding MM progression and prognosis utilizing a minimally invasive approach, paving the way for its integration into personalized treatment strategies and real-time disease monitoring.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"279-290"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Metabolic Biomarkers in Breast Cancer: A Literature Review.","authors":"Anbok Lee, Ching-Wan Lam","doi":"10.3343/alm.2024.0482","DOIUrl":"10.3343/alm.2024.0482","url":null,"abstract":"<p><p>Breast cancer is the most common cancer and the second leading cause of cancer death in women worldwide. Novel biomarkers for early diagnosis, treatment, and prognosis in breast cancer are needed and extensively studied. Metabolites, which are small molecules produced during metabolic processes, provide links between genetics, environment, and phenotype, making them useful biomarkers for diagnosis, prognosis, and disease classification. With recent advancements in metabolomics techniques, metabolomics research has expanded, which has led to significant progress in biomarker research. In breast cancer, alterations in metabolic pathways result in distinct metabolomic profiles that can be harnessed for biomarker discovery. Studies using mass spectrometry and nuclear magnetic resonance spectroscopy have helped identify significant changes in metabolites, such as amino acids, lipids, and organic acids, in the tissues, blood, and urine of patients with breast cancer, highlighting their potential as biomarkers. Integrative analysis of these metabolite biomarkers with existing clinical parameters is expected to improve the accuracy of breast cancer diagnosis and to be helpful in predicting prognosis and treatment responses. However, to apply these findings in clinical practice, larger cohorts for validation and standardized analytical methods for QC are necessary. In this review, we provide information on the current state of metabolite biomarker research in breast cancer, highlighting key findings and their clinical implications.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"229-246"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Influencing Fluorescence-activated Cell Sorting for Multiple Myeloma Fluorescence <i>in situ</i> Hybridization: Real-world Experience.","authors":"Jaeguk Choi, Kyunghee Yu, Seung-Tae Lee, Saeam Shin, Jong Rak Choi","doi":"10.3343/alm.2024.0582","DOIUrl":"10.3343/alm.2024.0582","url":null,"abstract":"<p><strong>Background: </strong>FISH is the standard method for detecting cytogenetic abnormalities (CAs) in patients with multiple myeloma, and pre-enrichment of plasma cells is recommended to increase detection rates. However, optimal strategies to ensure sufficient plasma cell retrieval when standard enrichment techniques fail remain underexplored. We investigated factors influencing the success of fluorescence-activated cell sorting (FACS) and assessed the use of direct FISH in cases in which FACS failed.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 457 bone marrow samples submitted for FISH between November 2016 and May 2022. FACS was considered successful when plasma cells (CD38+ and CD138+ cells) constituted >1% of the total number of cells. Direct FISH was performed for samples with FACS failure.</p><p><strong>Results: </strong>FACS was successful in 70.9% of cases and had a high positivity rate (94.8%). Shorter sample transfer times significantly improved FACS success, with a 77.1% success rate for transfer times <2 hrs, compared with 67.8% for longer times (<i>P</i> =0.0388). Plasma cell percentage was a strong determinant of FACS success, with a median of 31.2% in successful cases versus 8.5% in failures (<i>P</i> <0.0001). Even when FACS failed, direct FISH detected CAs in 43.6% of cases.</p><p><strong>Conclusions: </strong>Plasma cell percentage and sample transfer time are critical factors influencing FACS success. While FACS-FISH demonstrates superior sensitivity in detecting CAs, direct FISH serves as a valuable alternative when FACS fails. These findings highlight the importance of optimizing sample handling and FISH protocols for accurate cytogenetic analysis of multiple myeloma.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"322-328"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699368","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}