Annals of Laboratory Medicine最新文献

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Optimized Protocol for Producing Pathogen-Inactivated Double-Dose Platelet Concentrates From Six Pooled Buffy Coats. 从六件汇集的 Buffy Coat 中生产病原体灭活的双剂量血小板浓缩物的优化方案。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-21 DOI: 10.3343/alm.2024.0555
Marco Amato, Lisa Seekircher, Lena Tschiderer, Peter Willeit, Harald Schennach, Anita Siller
{"title":"Optimized Protocol for Producing Pathogen-Inactivated Double-Dose Platelet Concentrates From Six Pooled Buffy Coats.","authors":"Marco Amato, Lisa Seekircher, Lena Tschiderer, Peter Willeit, Harald Schennach, Anita Siller","doi":"10.3343/alm.2024.0555","DOIUrl":"https://doi.org/10.3343/alm.2024.0555","url":null,"abstract":"<p><strong>Background: </strong>Pooled platelet (PLT) production methods differ worldwide. In Europe, the buffy coat (BC) method is predominantly used, with four to eight BCs being pooled to produce single- or double-dose PLT products. The European Directorate for the Quality of Medicines & HealthCare (EDQM) blood guide and Austrian legislation define a therapeutic PLT unit as ≥ 2 × 10<sup>11</sup> PLTs/unit. We optimized the manufacturing steps to produce doubledose PLT products from six BCs, aiming to enhance production efficiency while maintaining product quality.</p><p><strong>Methods: </strong>We stepwise optimized our protocol starting from five BCs (BC5) (N=107). First, we included an additional BC (BC6) (N=110). Second, we used a hematology analyzer (Sysmex XN-1000) equipped with blood bank mode, which is a novel software application for measuring PLT counts in PLT units (BC6+XN-1000) (N=106). Third, we optimized the blood cell separator (BCS) settings to produce higher-volume BCs (BC6+XN-1000+BCS) (N=107). Fourth, we adapted the centrifugation (BC6+XN-1000+BCS+CF) (N=197). All units were pathogen-inactivated using the INTERCEPT blood system (amotosalen/ultraviolet A).</p><p><strong>Results: </strong>Each optimization step significantly increased the yield ( × 10<sup>11</sup>/PLT concentrate) (<i>P</i> <0.001). The mean yield increased from 2.83 (SD 0.39) for BC5 to 4.81 (SD 0.58) for BC6+XN-1000+BCS+CF. The mean BC volume increased from 47.78 mL (SD 5.09) to 55.59 mL (SD 5.11) following BCS adaptions (<i>P</i> <0.001).</p><p><strong>Conclusions: </strong>After stepwise protocol optimization, we could produce pathogen-inactivated double-dose PLT concentrates by pooling six BCs, complying with national regulations and EDQM quality requirements while reducing costs and minimizing blood wastage.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143668943","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
Are Your Laboratory Data Reproducible? The Critical Role of Imprecision From Replicate Measurements to Clinical Decision-Making. 您的实验室数据具有可重复性吗?从重复测量到临床决策,不精确性的关键作用。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-21 DOI: 10.3343/alm.2024.0569
Abdurrahman Coskun
{"title":"Are Your Laboratory Data Reproducible? The Critical Role of Imprecision From Replicate Measurements to Clinical Decision-Making.","authors":"Abdurrahman Coskun","doi":"10.3343/alm.2024.0569","DOIUrl":"https://doi.org/10.3343/alm.2024.0569","url":null,"abstract":"<p><p>Measurement results of biological samples are not perfect and vary because of numerous factors related to the biological samples themselves and the measurement procedures used to analyze them. The imprecision in patients' laboratory data arising from the measurement procedure, known as analytical variation, depends on the conditions under which the data are collected. Additionally, the sample type and sampling time significantly affect patients' laboratory results, particularly in serial measurements using samples collected at different time points. For accurate interpretation of patients' laboratory data, imprecision-both its analytical and biological components-should be properly evaluated and incorporated into data management. With advancements in measurement technologies, analytical imprecision can be minimized to an insignificant level compared to biological imprecision, which is inherent to all biomolecules because of the dynamic nature of metabolism. This review addresses: (i) the theoretical background of variation, (ii) the statistical and metrological evaluation of measurement variation, (iii) the assessment of variation under different conditions in medical laboratories, (iv) the impact of measurement variation on clinical decisions, (v) the influence of biases on measurement variation, and (vi) the variability of analytes in human metabolism. Collectively, both analytical and biological imprecision are inseparable aspects of all measurements in biological samples, with biological imprecision serving as the foundation of personalized laboratory medicine.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143668928","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
Establishment of a Multilocus Sequence Typing Scheme for Pasteurella canis Using Isolates From Infected Humans and Diseased Companion Animals.
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-20 DOI: 10.3343/alm.2024.0501
Haruno Yoshida, Jae-Seok Kim, Takahiro Maeda, Mieko Goto, Yuzo Tsuyuki, Kenichi Shizuno, Takashi Takahashi
{"title":"Establishment of a Multilocus Sequence Typing Scheme for <i>Pasteurella canis</i> Using Isolates From Infected Humans and Diseased Companion Animals.","authors":"Haruno Yoshida, Jae-Seok Kim, Takahiro Maeda, Mieko Goto, Yuzo Tsuyuki, Kenichi Shizuno, Takashi Takahashi","doi":"10.3343/alm.2024.0501","DOIUrl":"https://doi.org/10.3343/alm.2024.0501","url":null,"abstract":"<p><strong>Background: </strong>Multilocus sequence typing (MLST) is well-established for <i>Pasteurella multocida</i> but remains undeveloped for <i>Pasteurella canis</i>. We established MLST for <i>P. canis</i> using isolates from humans and companion animals in Japan and Korea to gain insights into its population biology.</p><p><strong>Methods: </strong>We analyzed 39 and 22 isolates from companion animals and humans, respectively. We selected seven housekeeping genes-<i>adk, aroA, deoD, gdhA, g6pd, mdh,</i> and <i>pgi</i>-used in <i>P. multocida</i> MLST. Primer pairs for PCR amplification and sequencing were designed based on conserved sites in 10 whole-genome sequences. We determined fragment sequences, variable sites, allelic profiles, and sequence types (STs) of each isolate. A phylogenetic tree of concatenated sequences was constructed using the goeBURST algorithm to identify STs and clonal complexes (CCs). <i>ompA</i>, encoding outer membrane protein A, was genotyped for molecular characterization.</p><p><strong>Results: </strong>The sequenced fragment lengths and allele numbers of the seven genes were 424, 451, 483, 439, 429, 419, and 440 bp and 16, 13, 15, 18, 22, 19, and 18, respectively. ST1-ST47, including CC2, CC10, CC18, CC31, and CC33, were diversely distributed among the isolates from different hosts/countries. In the seven-gene phylogenetic tree, apart from <i>P. multocida</i>, all isolates clustered together. goeBURST diagrams revealed diverse ST distributions among different hosts (animal/human) and countries (Japan/Korea/ others). We found clusters 1-4 in <i>ompA</i> genotyping, indicating that MLST discrimination is higher than <i>ompA</i> typing discrimination.</p><p><strong>Conclusions: </strong>We established MLST for <i>P. canis</i> isolates from humans and companion animals in Japan and Korea, thereby providing a robust tool for population biology studies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662202","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
Application of Metabolic Biomarkers in Breast Cancer: A Literature Review.
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-17 DOI: 10.3343/alm.2024.0482
Anbok Lee, Ching-Wan Lam
{"title":"Application of Metabolic Biomarkers in Breast Cancer: A Literature Review.","authors":"Anbok Lee, Ching-Wan Lam","doi":"10.3343/alm.2024.0482","DOIUrl":"https://doi.org/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":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current Status of Standardization of Glomerular Filtration Rate Markers in Korea. 韩国肾小球滤过率指标标准化现状。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-17 DOI: 10.3343/alm.2024.0702
Tae-Dong Jeong
{"title":"Current Status of Standardization of Glomerular Filtration Rate Markers in Korea.","authors":"Tae-Dong Jeong","doi":"10.3343/alm.2024.0702","DOIUrl":"https://doi.org/10.3343/alm.2024.0702","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647034","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
Sensitivity and Specificity of an All-in-One Cartridge-Based Dengue Real-Time RT-PCR for Point-of-Care Detection and Serotyping of Dengue Virus in Samples From Indonesian Patients.
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-17 DOI: 10.3343/alm.2024.0558
Marsha S Santoso, Eggi Arguni, Bunga Rana, Mercy E Adiniko, Dionisius Denis, Endah Supriyati, Citra Indriani, Leily Trianty, Riris Andono Ahmad, Rintis Noviyanti, R Tedjo Sasmono
{"title":"Sensitivity and Specificity of an All-in-One Cartridge-Based Dengue Real-Time RT-PCR for Point-of-Care Detection and Serotyping of Dengue Virus in Samples From Indonesian Patients.","authors":"Marsha S Santoso, Eggi Arguni, Bunga Rana, Mercy E Adiniko, Dionisius Denis, Endah Supriyati, Citra Indriani, Leily Trianty, Riris Andono Ahmad, Rintis Noviyanti, R Tedjo Sasmono","doi":"10.3343/alm.2024.0558","DOIUrl":"https://doi.org/10.3343/alm.2024.0558","url":null,"abstract":"<p><strong>Background: </strong>Dengue is a systemic, viral, mosquito-borne infection that continues to be a major public health issue in endemic regions in tropical and subtropical climates. Accurate tests for rapid diagnosis in point-of-care settings are important to reduce the fatality rates of severe dengue. We evaluated the diagnostic accuracy of the Standard M10 DENV 1-4 system (SD Biosensor, Gyeonggi, Korea), which is a cartridge-based, automated system that integrates nucleic acid extraction, reverse transcription-PCR (RT-PCR) amplification, and detection of dengue virus (DENV) serotypes.</p><p><strong>Methods: </strong>This was a retrospective diagnostic evaluation study. The index test, Standard M10 DENV 1-4, was evaluated using 320 dengue-positive and 279 dengue-negative archived samples. The reference tests were a combination of Centers for Disease Control and Prevention (CDC) DENV 1-4 real-time RT-PCR, dengue NS1 antigen and IgM antibody detection, and DENV whole-genome sequencing.</p><p><strong>Results: </strong>The overall sensitivity and specificity of Standard M10 DENV 1-4 were 94% and 100%, respectively. By serotype, the highest sensitivity was 100% for DENV-1, and the lowest was 82% for DENV-4. The overall between the CDC RT-PCR dengue serotyping method and the Standard M10 DENV 1-4 was 95%. Standard M10 DENV 1-4 RT-PCR had comparable sensitivity and specificity to CDC DENV RT-PCR.</p><p><strong>Conclusions: </strong>Based on its commensurate performance to an established RT-PCR method combined with additional benefits of convenient storage and transport, easy use, and rapid processing, the Standard M10 DENV 1-4 system has potential for DENV detection and serotyping in point-of-care settings.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646966","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
Agreement Evaluation in Statistical Analyses: Misconceptions and Key Features.
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-17 DOI: 10.3343/alm.2024.0685
Seungho Lee
{"title":"Agreement Evaluation in Statistical Analyses: Misconceptions and Key Features.","authors":"Seungho Lee","doi":"10.3343/alm.2024.0685","DOIUrl":"https://doi.org/10.3343/alm.2024.0685","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647025","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
Advancing Natural Killer Cell Therapy: Genetic Engineering Strategies for Enhanced Cancer Immunotherapy. 推进自然杀伤细胞治疗:增强癌症免疫治疗的基因工程策略。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2025-01-08 DOI: 10.3343/alm.2024.0380
Joo Dong Park, Ha Eun Shin, Yeon Su An, Hye Jung Jang, Juwon Park, Se-Na Kim, Chun Gwon Park, Wooram Park
{"title":"Advancing Natural Killer Cell Therapy: Genetic Engineering Strategies for Enhanced Cancer Immunotherapy.","authors":"Joo Dong Park, Ha Eun Shin, Yeon Su An, Hye Jung Jang, Juwon Park, Se-Na Kim, Chun Gwon Park, Wooram Park","doi":"10.3343/alm.2024.0380","DOIUrl":"10.3343/alm.2024.0380","url":null,"abstract":"<p><p>Natural killer (NK) cells are pivotal innate immune system components that exhibit spontaneous cytolytic activity against abnormal cells, such as infected and tumor cells. NK cells have shown significant promise in adoptive cell therapy because of their favorable safety profiles and minimal toxicity in clinical settings. Despite their advantages, the therapeutic application of unmodified NK cells faces challenges, including limited in vivo persistence, particularly in the immunosuppressive tumor microenvironment. Recent advances in genetic engineering have enhanced the therapeutic potential of NK cells by addressing these limitations and improving their therapeutic efficacy. In this review, we have described various methodologies for the genetic modification of NK cells, including viral vectors, electroporation, and nanoparticle-based approaches. The ongoing research on nanomaterialbased approaches highlights their potential to overcome current limitations in NK cell therapy, paving the way for advanced cancer therapy and improved clinical outcomes. In this review, we also emphasize the potential of engineered NK cells in cancer immunotherapy and other clinical applications, highlighting the expanding scope of NK cell-based treatments and the critical role of innovative genetic engineering techniques.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"146-159"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943421","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
Artificial Intelligence in Diagnostics: Enhancing Urine Test Accuracy Using a Mobile Phone-Based Reading System. 人工智能在诊断中的应用:利用基于手机的读取系统提高尿液检测的准确性。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2024-12-16 DOI: 10.3343/alm.2024.0304
Hyun Jin Kim, Manmyung Kim, Hyunjae Zhang, Hae Ri Kim, Jae Wan Jeon, Yuri Seo, Qute Choi
{"title":"Artificial Intelligence in Diagnostics: Enhancing Urine Test Accuracy Using a Mobile Phone-Based Reading System.","authors":"Hyun Jin Kim, Manmyung Kim, Hyunjae Zhang, Hae Ri Kim, Jae Wan Jeon, Yuri Seo, Qute Choi","doi":"10.3343/alm.2024.0304","DOIUrl":"10.3343/alm.2024.0304","url":null,"abstract":"<p><strong>Background: </strong>Urinalysis, an essential diagnostic tool, faces challenges in terms of standardization and accuracy. The use of artificial intelligence (AI) with mobile technology can potentially solve these challenges. Therefore, we investigated the effectiveness and accuracy of an AI-based program in automatically interpreting urine test strips using mobile phone cameras, an approach that may revolutionize point-of-care testing.</p><p><strong>Methods: </strong>We developed novel urine test strips and an AI algorithm for image capture. Sample images from the Chungnam National University Sejong Hospital were collected to train a k-nearest neighbor classification algorithm to read the strips. A mobile application was developed for image capturing and processing. We assessed the accuracy, sensitivity, specificity, and ROC area under the curve for 10 parameters.</p><p><strong>Results: </strong>In total, 2,612 urine test strip images were collected. The AI algorithm demonstrated 98.7% accuracy in detecting urinary nitrite and 97.3% accuracy in detecting urinary glucose. The sensitivity and specificity were high for most parameters. However, this system could not reliably determine the specific gravity. The optimal time for capturing the test strip results was 75 secs after dipping.</p><p><strong>Conclusions: </strong>The AI-based program accurately interpreted urine test strips using smartphone cameras, offering an accessible and efficient method for urinalysis. This system can be used for immediate analysis and remote testing. Further research is warranted to refine test parameters such as specific gravity to enhance accuracy and reliability.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"178-184"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827006","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
Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia. 骨髓增生异常综合征和急性髓系白血病中5号和7号染色体的异常。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-03-01 Epub Date: 2025-01-08 DOI: 10.3343/alm.2024.0477
Tulene S Kendrick, Daria Buic, Kathy A Fuller, Wendy N Erber
{"title":"Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.","authors":"Tulene S Kendrick, Daria Buic, Kathy A Fuller, Wendy N Erber","doi":"10.3343/alm.2024.0477","DOIUrl":"10.3343/alm.2024.0477","url":null,"abstract":"<p><p>Chromosomes 5 and 7 are large chromosomes that contain close to 1,000 genes each. Deletions of the long arms or loss of the entire chromosome (monosomy) are common defects in myeloid disorders, particularly MDS and AML. Loss of material from either chromosome 5 or 7 results in haploinsufficiency of multiple genes, with some implicated in leukemogenesis. Abnormalities of one or both occur in up to 15% of MDS and AML cases and co-segregate in half of these. Generally, these chromosomal abnormalities are harbingers of adverse risk in both myeloid disorders. A notable exception is del(5q) in 5q- syndrome, a subtype of MDS. In this review, we describe the pathogenesis and genetic consequences of deletions in chromosomes 5 and 7. Furthermore, we provide an overview of current testing methodologies used in the assessment of these chromosomal defects in hematological malignancies and describe the disease associations and prognostic implications of aberrations in chromosomes 5 and 7 in both MDS and AML.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"133-145"},"PeriodicalIF":4.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943420","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
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