Annals of Laboratory Medicine最新文献

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}

引用次数: 0

Tuberous Sclerosis Complex Caused by TSC2 Inversion and Deletions Identified Using Whole-genome Sequencing: A Case Study. 使用全基因组测序鉴定由TSC2倒置和缺失引起的结节性硬化症：一个案例研究。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-01 Epub Date: 2025-06-17 DOI: 10.3343/alm.2025.0063

DongJu Yoon, Jung Ah Kwon, Soo-Young Yoon, Baik-Lin Eun, Jung Yoon

引用次数: 0

Standards and Practice Guidelines for Venous Blood Collection: Consensus Recommendations from the Korean Society for Laboratory Medicine. 静脉血采集的标准和实践指南：韩国检验医学学会的一致建议。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-01 Epub Date: 2025-06-17 DOI: 10.3343/alm.2025.0022

Jeonghyun Chang, Sooin Choi, Hanwool Cho, Sollip Kim, Jae-Woo Chung, Soo Jin Yoo, Eun Young Song, Sail Chun

{"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":"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.","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}

引用次数: 0

XN-1000 Hematology Analyzer as an Alternative to Flow Cytometry for Measuring Residual Cells in Blood Components. XN-1000血液学分析仪作为流式细胞术的替代，用于测量血液成分中的残留细胞。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-01 Epub Date: 2025-02-12 DOI: 10.3343/alm.2024.0448

Anita Siller, Lisa Seekircher, Daniela Schmidt, Lena Tschiderer, Peter Willeit, Harald Schennach, Marco Amato

{"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":"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.","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}

引用次数: 0

Pancreatic Cancer Detection and Differentiation from Chronic Pancreatitis: Potential Biomarkers Identified through a High-Throughput Multiplex Proteomic Assay and Machine Learning-Based Analysis. 胰腺癌的检测和慢性胰腺炎的分化：通过高通量多重蛋白质组学分析和基于机器学习的分析确定的潜在生物标志物。

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-07-01 Epub Date: 2025-04-02 DOI: 10.3343/alm.2024.0492

Young-Gon Kim, Sang-Mi Kim, Soo-Youn Lee

{"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":"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.","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}

引用次数: 0

MYD88 L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker. 用液滴数字PCR检测Waldenström巨球蛋白血症中MYD88 L265P变异：作为肿瘤负担和预后标志物的临床意义

IF 4.9 2区医学

Annals of Laboratory Medicine Pub Date : 2025-06-27 DOI: 10.3343/alm.2024.0644

Woo Jin Shin,Yoo Jin Kang,Aram Kim,Jeong-Ok Lee,Sang Mee Hwang

{"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}

引用次数: 0

MYD88 L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker. 用液滴数字PCR检测Waldenström巨球蛋白血症中MYD88 L265P变异：作为肿瘤负担和预后标志物的临床意义

IF 4 2区医学

Annals of Laboratory Medicine Pub Date : 2025-06-27 DOI: 10.3343/alm.2024.0644

Woo Jin Shin, Yoo Jin Kang, Aram Kim, Jeong-Ok Lee, Sang Mee Hwang

{"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":" ","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}

引用次数: 0