Annals of Laboratory Medicine最新文献

High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches. 使用靶向和非靶向方法检测外显子水平拷贝数变异的高分辨率染色体微阵列诊断潜力。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-30 DOI: 10.3343/alm.2025.0123

Yeseul Kim,Jee-Soo Lee,Boram Kim,Man Jin Kim,Sung Im Cho,Seung Won Chae,Ho Seob Shin,Hoyeon Lee,Ji Yeon Kim,Moon-Woo Seong

{"title":"High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.","authors":"Yeseul Kim,Jee-Soo Lee,Boram Kim,Man Jin Kim,Sung Im Cho,Seung Won Chae,Ho Seob Shin,Hoyeon Lee,Ji Yeon Kim,Moon-Woo Seong","doi":"10.3343/alm.2025.0123","DOIUrl":"https://doi.org/10.3343/alm.2025.0123","url":null,"abstract":"BackgroundCopy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.MethodsWe evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.ResultsFor target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P =0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.ConclusionsThe CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"13 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144737391","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}

引用次数: 0

Effect of Variability on Interferon-Gamma Release Assay Performance: A Quantitative Analysis. 变异对干扰素释放试验性能的影响：定量分析。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-24 DOI: 10.3343/alm.2025.0066

Won-Ki Min

{"title":"Effect of Variability on Interferon-Gamma Release Assay Performance: A Quantitative Analysis.","authors":"Won-Ki Min","doi":"10.3343/alm.2025.0066","DOIUrl":"https://doi.org/10.3343/alm.2025.0066","url":null,"abstract":"Interferon-gamma release assays (IGRAs) are widely used to identify latent tuberculosis infection (LTBI); however, inherent test variability affects their diagnostic interpretation. We evaluated false-positive and false-negative rates, as well as conversion and reversion rates across CVs of 20%, 40%, 60%, 80%, and 100%, using statistical modeling. At a diagnostic cutoff of 0.35 IU/mL, false-negative rates increased from 1.61% to 33.41% with increasing CVs, whereas false-positive rates ranged from 0.00% to 15.87% within the 0.20-0.70 IU/mL borderline range. Expanding the borderline to 0.20-1.00 IU/mL reduced false-positive rates to a maximum of 3.16%, without affecting false-negative rates. Within the 0.20-0.70 IU/mL borderline zone, correct reversion and false conversion rates at 0.20 and 0.35 IU/mL ranged from 0.01% to 25.00% and 0.00% to 24.20%, respectively. At 0.35, 0.70, and 1.00 IU/mL, correct conversion and false reversion rates ranged from 0.05% to 24.20% and 0.00% to 25.00%, respectively. These results highlight the importance of adopting borderline zones in IGRA interpretation to reduce misclassification, although variability from manufacturing, pre-analytical processing, and analytical procedures remains a significant challenge. Reducing such variability through improved production consistency, standardized sample handling, and automated analysis platforms is essential to enhance the diagnostic reliability of IGRAs for LTBI.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"14 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693366","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}

引用次数: 0

Optimization of Natural Killer Cell Expansion with K562-mbIL-18/-21 Feeder Cells and Assurance of Feeder Cell-free Products. K562-mbIL-18/-21喂料细胞自然杀伤细胞扩增的优化及无喂料细胞产物的保证

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-24 DOI: 10.3343/alm.2025.0168

Hantae Jo,Yujung Jo,Seung Kwon Koh,Jinho Kim,SoonHo Kweon,Jeehun Park,Hyun-Young Kim,Duck Cho,Mijeong Lee

{"title":"Optimization of Natural Killer Cell Expansion with K562-mbIL-18/-21 Feeder Cells and Assurance of Feeder Cell-free Products.","authors":"Hantae Jo,Yujung Jo,Seung Kwon Koh,Jinho Kim,SoonHo Kweon,Jeehun Park,Hyun-Young Kim,Duck Cho,Mijeong Lee","doi":"10.3343/alm.2025.0168","DOIUrl":"https://doi.org/10.3343/alm.2025.0168","url":null,"abstract":"BackgroundCancer cell line-derived feeder cells enhance natural killer (NK) cell expansion; however, concerns regarding viable residual feeder cells in the final product limit their use. Evidence supporting the safety of NK-sensitive K562-based feeders, even when irradiated, is scarce. We optimized an NK cell expansion protocol using genetically engineered K562-mbIL-18/-21 (GE-K562) feeder cells and clinical-grade media and confirmed the absence of residual feeder cells.MethodsNK cell expansion efficiency was compared between feeder-free and feeder-based systems using CTS NK-Xpander Medium. To achieve optimal NK expansion, various peripheral blood mononuclear cell (PBMC)-to-feeder ratios and re-stimulation frequencies were tested over 21 days. Flow cytometry and BCR::ABL1 quantitative reverse transcription PCR (RT-qPCR) were used to confirm the absence of feeder cells in the final NK cell product.ResultsFeeder-based systems showed superior NK cell fold expansion compared with that of feeder-free systems. Among feeder-based conditions, NK cells expanded 5,224-fold at a 2:1 PBMC-to-feeder ratio after 3 weeks, relative to 1,450-fold at a 6:1 ratio (P <0.05). Re-stimulation on days 7 and 14 further increased expansion up to 261,457-fold. Irradiated feeder cells showed no proliferation and were eliminated within 3-6 days. On day 21, flow cytometry and BCR::ABL1 RT-qPCR results confirmed the absence of residual feeder cells.ConclusionsOur optimized NK cell expansion protocol using irradiated GE-K562 feeder cells and clinical-grade media offers a safe and scalable approach to generating large numbers of NK cells, supporting its potential use in clinical immunotherapy applications.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"32 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693310","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}

引用次数: 0

Kogene PowerChek Multiplex Real-time PCR Kits Versus the BioFire FilmArray Gastrointestinal Panel: Roles of Crossing Point Values and Melting Curves in Interpreting the FilmArray Gastrointestinal Panel. Kogene powercheck Multiplex Real-time PCR试剂盒与BioFire FilmArray胃肠道面板：交叉点值和熔化曲线在解释FilmArray胃肠道面板中的作用

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-21 DOI: 10.3343/alm.2025.0047

In Young Yoo,Sungjin Jo,Joo An Kwon,Jay Ho Han,Hae Kyung Lee,Yeon-Joon Park

{"title":"Kogene PowerChek Multiplex Real-time PCR Kits Versus the BioFire FilmArray Gastrointestinal Panel: Roles of Crossing Point Values and Melting Curves in Interpreting the FilmArray Gastrointestinal Panel.","authors":"In Young Yoo,Sungjin Jo,Joo An Kwon,Jay Ho Han,Hae Kyung Lee,Yeon-Joon Park","doi":"10.3343/alm.2025.0047","DOIUrl":"https://doi.org/10.3343/alm.2025.0047","url":null,"abstract":"BackgroundVarious molecular methods are used to rapidly detect gastrointestinal pathogens, highlighting the importance of understanding the performance of the associated kits in detail. We comprehensively assessed the performance of Kogene PowerChek multiplex real-time PCR kits (PowerChek Bacterial/Viral Kits) with the FilmArray GI Panel.MethodsResidual stool specimens (N=246), initially tested utilizing the FilmArray GI Panel (May 2023-Jan 2024), were reanalyzed using PowerChek Bacterial/Viral Kits. Discrepancies were resolved by performing additional molecular assays and reviewing culture results when available. True positives (TPs)/true negatives were defined by concordant results in at least two assays. We determined cycle threshold (Ct)/crossing point (Cp) distributions between the TP and false positive (FP) groups and analyzed melting curves for the FilmArray GI Panel FPs.ResultsThe positive-percent agreement (PPA) of the PowerChek Bacterial/Viral Kits was 50-100%, with lower values for Salmonella spp., rotavirus, and astrovirus, whereas the FilmArray GI Panel showed 100% PPA across all targets. Both platforms demonstrated >99% negative-percent agreement, except for enteropathogenic Escherichia coli (EPEC) and adenovirus (PowerChek Bacterial/Viral Kits) or EPEC, enteroaggregative E. coli, norovirus, and Salmonella spp. (FilmArray GI Panel). The FPs showed higher Ct/Cp values with both kits, and these values were significantly higher for adenovirus (PowerChek Viral Kit), EPEC, and norovirus (FilmArray GI Panel). Melting curve analysis of four norovirus FPs (FilmArray GI Panel) revealed atypical patterns in three cases.ConclusionsThe FilmArray GI Panel demonstrated higher sensitivity than the PowerChek Kits. For norovirus, melting curve analysis will help avoid FPs.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"661 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144669338","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}

引用次数: 0

Regions of Homozygosity Identified with a Chromosomal Microarray in a Korean Population: Distribution, Frequency, and Clinical Interpretation. 用染色体微阵列鉴定的韩国人群纯合子区域：分布、频率和临床解释。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-18 DOI: 10.3343/alm.2025.0021

Jaeryuk Kim,Sunghee Min,Chang Ahn Seol,Eul-Ju Seo

{"title":"Regions of Homozygosity Identified with a Chromosomal Microarray in a Korean Population: Distribution, Frequency, and Clinical Interpretation.","authors":"Jaeryuk Kim,Sunghee Min,Chang Ahn Seol,Eul-Ju Seo","doi":"10.3343/alm.2025.0021","DOIUrl":"https://doi.org/10.3343/alm.2025.0021","url":null,"abstract":"BackgroundSingle nucleotide polymorphism-based chromosomal microarray analysis (CMA) can detect regions of homozygosity (ROHs), which may be associated with medical conditions; however, limited ROH data, especially in East Asians, complicates clinical interpretations. We characterized ROH distributions and frequencies in a Korean population using CMA, highlighting clinically relevant findings, including suspected uniparental disomy (UPD), using standardized criteria.MethodsWe analyzed ROHs in 1,731 individuals who underwent postnatal CMA at a Korean medical center. ROHs ≥ 3 Mb long were detected using the CytoScan Dx platform and Chromosome Analysis Suite Dx. Suspected UPD and consanguinity were assessed per the American College of Medical Genetics and Genomics technical standards.ResultsWe identified 3,962 ROHs, with 76.7% of patients carrying at least one. Common \"hotspot\" regions included 3p21.31p21.1 (20.3%), 11p11.2 (18.2%), 1q21.1q21.3 (17.7%), and 1p33p32.3 (12.0%). Almost all ROHs observed in >1% of patients had a median size of <5 Mb. ROH frequencies correlated negatively with chromosomal recombination rates and positively with gene densities. Additionally, 1.2% (N = 21) of patients exhibited ROH patterns suggestive of UPD or consanguinity (13 suspected UPDs on imprinted chromosomes, 6 on non-imprinted chromosomes, and 2 consanguinities); 8 of 13 patients with suspected UPD were diagnosed as having imprinting disorders, with no pathogenic copy number variations detected.ConclusionsOur population-specific ROH data for Koreans improve clinical interpretations by minimizing the risk of overinterpreting benign variants and highlight the value of standardized criteria for reliably detecting UPD and consanguinity and integrating ROH analysis into routine CMA interpretations.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"24 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144652888","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}

引用次数: 0

In Vitro Diagnostics Certification for Creatinine Assays in Korea over 7 Years: Achievements and Future Outlook. 体外诊断认证肌酐测定在韩国超过7年：成就和未来展望

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-16 DOI: 10.3343/alm.2024.0654

Eun-Jung Cho,Joonsang Yu,Jeayeon Ryu,Jiwoo Seo,Hyunae Lee,Chan-Ik Cho,Tae-Dong Jeong,Sollip Kim,Woochang Lee,Sail Chun,Won-Ki Min

{"title":"In Vitro Diagnostics Certification for Creatinine Assays in Korea over 7 Years: Achievements and Future Outlook.","authors":"Eun-Jung Cho,Joonsang Yu,Jeayeon Ryu,Jiwoo Seo,Hyunae Lee,Chan-Ik Cho,Tae-Dong Jeong,Sollip Kim,Woochang Lee,Sail Chun,Won-Ki Min","doi":"10.3343/alm.2024.0654","DOIUrl":"https://doi.org/10.3343/alm.2024.0654","url":null,"abstract":"BackgroundAn international reference measurement laboratory network for creatinine (Cr) is lacking; therefore, Korea developed an independent evaluation and certification system. The in vitro diagnostics (IVD) certification program, launched in 2017, formed part of a broader Cr standardization initiative intended to enhance accuracy at the manufacturing stage.MethodsThe program was designed to evaluate analytical systems, including all reagent lots, calibrators, and instrument models, twice annually. Bias, imprecision, total error (TE), and linearity were evaluated based on established acceptance criteria. A post-certification process allows submission for a second challenge and validation of corrective actions.ResultsBetween 2017 and 2023, 489 analytical systems were evaluated. Average acceptance rates for bias, imprecision, TE, and linearity were 70.8%, 95.9%, 87.7%, and 87.8%, respectively. The lowest acceptance rate for bias evaluation was 8.7% for the kinetic Jaffe method without compensation in 2018. Over the 7-year period, the mean absolute percentage bias (absBias%), coefficient of variation (CV), and TE were 4.62%, 1.37%, and 7.29%, respectively. The highest absBias% (7.94%) was observed in the 0.0 ≤ Cr < 1.0 target value range. Since 2019, a consistent reduction in absBias% has been observed.ConclusionsThis program is a pioneering response to the absence of a global certification program for Cr assays. It offers significant advantages, including comprehensive evaluations, fee-free participation, and a robust post-certification process. Continuous participation and improvement efforts by manufacturers have contributed to enhanced accuracy in Cr assays.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"44 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639839","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}

引用次数: 0

Role of the QuantiFERON-Monitor in Assessing the Immune Status of Patients with Acute Respiratory Failure in Adult Intensive Care Units: A Prospective, Observational Study. 定量干扰素监测器在评估成人重症监护病房急性呼吸衰竭患者免疫状态中的作用：一项前瞻性观察性研究

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-10 DOI: 10.3343/alm.2024.0691

Taehwa Kim,Daesup Lee,Woo Hyun Cho,Sun Min Lee,Kyung-Hwa Shin,Hye Ju Yeo

{"title":"Role of the QuantiFERON-Monitor in Assessing the Immune Status of Patients with Acute Respiratory Failure in Adult Intensive Care Units: A Prospective, Observational Study.","authors":"Taehwa Kim,Daesup Lee,Woo Hyun Cho,Sun Min Lee,Kyung-Hwa Shin,Hye Ju Yeo","doi":"10.3343/alm.2024.0691","DOIUrl":"https://doi.org/10.3343/alm.2024.0691","url":null,"abstract":"BackgroundThe utility of the QuantiFERON-Monitor (QFM, Qiagen), a tool developed to assess general immune function, remains insufficiently explored in critically ill patients with acute respiratory failure (ARF). Therefore, we used the QFM to evaluate the immune function of patients with ARF at intensive care unit (ICU) admission and monitored QFM changes based on disease severity and clinical outcome correlations.MethodsWe evaluated the immune function of 99 patients with ARF in an ICU setting. The QFM was evaluated upon ICU admission, day 7 post-ICU admission, and discharge. Their results were compared with those of five healthy controls.ResultsThe QFM levels at ICU admission were significantly lower in patients with ARF than in healthy controls (median IUs/mL: 5.5 vs. 465.0, respectively). The QFM levels in patients with coronavirus disease 2019 or pneumonia (9.2 and 7.9 IUs/mL, respectively) were higher than those in patients with acute respiratory distress syndrome or septic shock (4.9 and 3.6 IUs/mL, respectively). On day 7, the QFM levels increased to 8.3 IUs/mL and reached 16.7 IUs/mL at discharge. At ICU admission, patients requiring ventilator support had lower QFM levels than those requiring nasal prong or high-flow nasal cannula support. Those who died in the ICU had significantly lower QFM levels (4.0 IUs/mL) at ICU admission than those who survived (5.8 IUs/mL).ConclusionsReduced QFM levels among patients with severe ARF reflect impaired cellular immune responses and suggest that QFM may serve as a practical tool for early risk stratification and immune monitoring in ICU settings.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"266 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144594226","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}

引用次数: 0

Association of ASXL1 and RUNX1 Variants with Splenomegaly in MDS Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study. 基于下一代测序和计算机断层扫描数据的ASXL1和RUNX1变异与MDS患者脾肿大的关联：一项回顾性研究

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-07 DOI: 10.3343/alm.2025.0033

Youngjae Huh,Jaebon Lee,Inha Hwang,Ye Eun Yoon,Eun Jin Lee,Taekyu Lim,Jae Won Yun

{"title":"Association of ASXL1 and RUNX1 Variants with Splenomegaly in MDS Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.","authors":"Youngjae Huh,Jaebon Lee,Inha Hwang,Ye Eun Yoon,Eun Jin Lee,Taekyu Lim,Jae Won Yun","doi":"10.3343/alm.2025.0033","DOIUrl":"https://doi.org/10.3343/alm.2025.0033","url":null,"abstract":"Although splenomegaly is typically uncommon in myelodysplastic syndromes (MDS), it is associated with reduced engraftment rates and poor survival outcomes. Despite its clinical significance, the incidence and genetic associations of splenomegaly in MDS remain understudied. To address this, we conducted a retrospective study of 27 patients with MDS at the Veterans Health Service Medical Center in South Korea. Based on computed tomography scan evaluation, splenomegaly was identified in 26% of patients with MDS, and significant associations with variants in ASXL1 (P=0.0089 for null and missense/inframe variants) and RUNX1 (P=0.042 for null variants) were observed, suggesting that these variants are linked to an increased risk of splenomegaly. Notably, one patient with ASXL1 and TET2 variants developed severe splenomegaly (spleen size, 29 cm) following granulocyte colony-stimulating factor (G-CSF) treatment, requiring splenectomy. This case suggests a potential interaction between specific genetic variants and G-CSF sensitivity, potentially exacerbating splenomegaly. Our findings suggest that the incidence of splenomegaly in patients with MDS, including mild cases, is likely underestimated and that ASXL1 and RUNX1 variants increase the risk of splenomegaly. Furthermore, careful monitoring for the development of severe splenomegaly during G-CSF treatment may be warranted in genetically susceptible individuals with MDS.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"8 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144568619","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}

引用次数: 0

A Machine Learning Approach to Reference Interval Estimation for Red Cell Parameters in a South and East Asian Population. 南亚和东亚人群红细胞参数参考区间估计的机器学习方法。

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-03 DOI: 10.3343/alm.2025.0027

Veera Sekaran Nadarajan,Pavai Sthaneshwar,Jia Qi Lim,Angeli Ambayya,Putri Junaidah Megat Yunus

{"title":"A Machine Learning Approach to Reference Interval Estimation for Red Cell Parameters in a South and East Asian Population.","authors":"Veera Sekaran Nadarajan,Pavai Sthaneshwar,Jia Qi Lim,Angeli Ambayya,Putri Junaidah Megat Yunus","doi":"10.3343/alm.2025.0027","DOIUrl":"https://doi.org/10.3343/alm.2025.0027","url":null,"abstract":"BackgroundIron deficiency (ID) and hemoglobinopathies are highly prevalent in Southeast Asia. Accurate estimation of reference intervals (RIs) for red cell parameters is complicated by the need to exclude individuals with these conditions from the reference population. Indirect RI estimations using machine learning could help overcome these challenges.MethodsWe developed a binary classification model using eXtreme Gradient Boosting (XGB) to distinguish normal individuals from those with ID, hemoglobinopathies, or other anemias. The model was trained on an annotated dataset comprising 5,520 complete blood count (CBC) results and validated with a holdout dataset of 2,367 CBC results. An independent dataset of 64,100 CBC results was used to identify individuals predicted to be normal, from which RIs were estimated using the refineR algorithm.ResultsThe XGB model achieved an area under the ROC of 0.97 (95% confidence interval: 0.96-0.97) for distinguishing between individuals with normal versus abnormal values. Among individuals within the independent dataset, 40,300 (62.9%) were predicted to be normal. The refineR-based reference limits (RLs) derived from this subset approximated those obtained through a direct approach. Improvements in the accuracy of indirect RL estimates were most evident for hematocrit, hemoglobin, and red cell concentrations.ConclusionsCombining XGB with refineR to indirectly derive RIs for red cell parameters improved the accuracy and yielded results comparable with those of directly derived RIs. A further benefit was the capacity to generate sex- and age-specific ranges, which has remained difficult to achieve through direct approaches.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":"92 1","pages":""},"PeriodicalIF":4.9,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144547854","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}

引用次数: 0

Analytical Interference of Exemestane With Androstenedione Immunoassays. 依西美坦与雄烯二酮免疫分析法的干扰分析。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-01 Epub Date: 2025-03-21 DOI: 10.3343/alm.2024.0362

Marina Giralt, Roser Ferrer, Noelia Díaz-Troyano, Belén Vega, Manuel Luque-Ramírez, Sílvia Martínez, Bárbara Fernández, Irene Martínez, Aleix Fabregat, Eulalia Urgell, Ignacio Cardona, Gregori Casals, Héctor F Escobar-Morreale

{"title":"Analytical Interference of Exemestane With Androstenedione Immunoassays.","authors":"Marina Giralt, Roser Ferrer, Noelia Díaz-Troyano, Belén Vega, Manuel Luque-Ramírez, Sílvia Martínez, Bárbara Fernández, Irene Martínez, Aleix Fabregat, Eulalia Urgell, Ignacio Cardona, Gregori Casals, Héctor F Escobar-Morreale","doi":"10.3343/alm.2024.0362","DOIUrl":"10.3343/alm.2024.0362","url":null,"abstract":"Background: Exemestane, an aromatase inhibitor commonly used for breast cancer treatment, shares structural similarities with sex steroids analyzed in clinical laboratories. We aimed to investigate the influence of exemestane cross-reactivity in the measurement of sex steroids across various immunoassays.Methods: We conducted a multicenter study involving measurements of androstenedione, testosterone, estradiol, progesterone, and 17-hydroxyprogesterone in serum samples from women undergoing exemestane therapy (N=15; 25 mg/day). Measurements were performed using liquid chromatography-mass spectrometry (LC-MS) and various commercially available chemiluminescence immunoassays, ELISA, and radioimmunoassay. In-vitro cross-reactivity was assessed by adding exemestane and 17-hydroexemestane to serum samples.Results: Patients undergoing exemestane therapy had markedly falsely elevated androstenedione results in all immunoassays evaluated (N=4), which correlated with serum exemestane levels. In-vitro experiments confirmed this interference to be caused by cross-reactivity with exemestane. Additionally, one immunoassay yielded falsely elevated estradiol results in 20% of patients. However, in-vitro experiments did not confirm this to be caused by cross-reactivity with exemestane or 17-hydroexemestane.Conclusions: Exemestane cross-reacts with androstenedione immunoassays, causing falsely elevated results in treated patients. This analytical interference may raise unnecessary concerns, leading to expensive diagnostic workups.","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"410-419"},"PeriodicalIF":4.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143668880","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}

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