Clinical laboratory最新文献

{"title":"Identify a Novel ABO Allele Similar to ABO*AW.41 Allele with Additional c. 467C>T.","authors":"Hong Zhao, Haijuan Wang, Guojin Ou","doi":"10.7754/Clin.Lab.2024.241021","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241021","url":null,"abstract":"<p><strong>Background: </strong>Accurate identification of the ABO blood group is of great significance in ensuring the safety of clinical blood transfusions. Using molecular technologies combined with serological testing helps to identify the new ABO variants.</p><p><strong>Methods: </strong>The traditional serological blood type test was performed for a 4-year-old Chinese boy, and the result showed a weaker agglutination with anti-A reagent (3+ strength by microcolumn gel card method; 2+ strength by saline tube method). A molecular genotyping assay was performed to get more information.</p><p><strong>Results: </strong>The ABO gene sequence study indicated two heterozygous nucleotide sites: c.370A>G (p.Lys124Glu) in exon 6 and c.467C>T (p.Pro156Leu) in exon 7, and ABO*B.01 mutations. Further single-strand sequencing analysis showed that the mutation sites were located in gene A. The individual c.467T variant was unique to the ABO*A1.02 allele, while the c.370A>G was not found in the known ABO*A1.02 allele. The individual c.370A>G mutation was characteristic of ABO*AW.41 (previously also known as Ax17), but the ABO*AW.41 allele did not contain the c. 467C>T mutation.</p><p><strong>Conclusions: </strong>A novel A allele with c.370A>G in the ABO*A102 allele or ABO*AW.41 with c.467C>T was identified, leading to a weak A phenotype.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"False Positive C-ANCA Caused by Antinuclear Antibody: a Case Report and Literature Review.","authors":"Hong-Gang Sun, Li-Qin He","doi":"10.7754/Clin.Lab.2024.241036","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241036","url":null,"abstract":"<p><strong>Background: </strong>Antineutrophil cytoplasmic antibody (ANCA) is an autoantibody against the cytoplasmic components of neutrophils and monocytes. ANCA related vasculitis includes granulomatous polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatous polyangiitis (EGPA). The detection of ANCA has important clinical significance for the diagnosis, differential diagnosis, classification, condition monitoring, and prognosis of these diseases. The treatment and prognosis of ANCA associated vasculitis are closely related to the titer and activity of ANCA, so the detection of ANCA has important clinical application value. The interference factors of ANCA detection include antinuclear antibody (ANA), which may affect the accuracy of ANCA detection results.</p><p><strong>Methods: </strong>Antineutrophil cytoplasmic antibody and antinuclear antibody were detected by indirect immunofluorescence, and the related antibodies in antinuclear antibody were detected by western blotting. In the diagnosis of GPA, C-ANCA test results should be interpreted in combination with the clinical manifestations of patients, and interference should be excluded. C-ANCA is positive and MPO is negative. It should be considered that antinu-clear antibody (ANA) may interfere with ANCA test results.</p><p><strong>Results: </strong>The patient was positive for C-ANCA (+++) and negative for MPO antibody. The patient showed no symptoms related to vasculitis. Further detection of antinuclear antibodies and indirect immunofluorescence results showed that the nuclear homogeneous type and specific ds-DNA antibody were positive, suggesting the presence of systemic lupus erythematosus or another autoimmune disease with a high specificity for these autoanti-bodies.</p><p><strong>Conclusions: </strong>Antinuclear antibody test showed that ana positive and ds-DNA antibody positive indirect immunofluorescence results were nuclear homogeneous type. Therefore, the patient was considered as a false positive of C-ANCA caused by antinuclear antibody.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Correlation between Serum Heat Shock Protein 90α and the Diagnosis and Classification of Acute Myeloid Leukemia in Children.","authors":"Wan Y Qin, Miao M Ma, Bin F Wang, Jing Deng","doi":"10.7754/Clin.Lab.2024.241043","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241043","url":null,"abstract":"<p><strong>Background: </strong>The purpose of this study was to investigate the correlation between serum heat shock protein 90α (HSP90α) level and disease diagnosis and classification in children with acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>Sixty-six children with treatment-naive AML and 35 healthy controls were enrolled. Serum HSP90α levels were measured by ELISA. Serum HSP90 levels were analyzed in relation to AML diagnosis, classification, and prognosis prediction among children.</p><p><strong>Results: </strong>Serum HSP90α in children with AML was significantly higher than that in healthy controls. The ROC curve showed that serum HSP90α had excellent diagnostic efficacy for AML, with an AUC of 0.820 (95% CI: 0.737 - 0.902). Serum HSP90α was differentially expressed in different FAB subtypes of AML, which was significantly increased in M1 and M2 subtypes. Compared with the low HSP90α level group, the proportion of BM blast (%) in the high HSP90α level group was significantly increased, and the cytogenetic risk was higher. Serum HSP90α was positively correlated with BM blast (%), but no correlation was observed with the proportion of BM monocytes, lymphocytes, and red blood cells. Children with high HSP90α levels tended to have shorter overall survival than those with low HSP90α levels.</p><p><strong>Conclusions: </strong>HSP90 level in serum may serve as a reliable biomarker for the diagnosis of childhood AML and its subtypes, and abnormal expression may contribute to disease occurrence and progression.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrence Screening of Undifferentiated Pleomorphic Sarcoma with Giant Cells of the Breast.","authors":"Hua Fan, Hong-Rong Qian","doi":"10.7754/Clin.Lab.2025.250127","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250127","url":null,"abstract":"<p><strong>Background: </strong>Undifferentiated pleomorphic sarcoma (UPS) of the breast is a rare mesenchymal tumor that is not commonly encountered in clinical settings. Given its high recurrence rate, close monitoring, and follow-up are strongly recommended.</p><p><strong>Methods: </strong>In this case, the recurrence of UPS with giant cells of the breast was screened through ultrasound imaging and tumor marker tests, including CA 15-3 and CA 72-4.</p><p><strong>Results: </strong>Following recurrence, the patient achieved partial clinical remission after six cycles of epirubicin-based adjuvant chemotherapy. In accordance with the patient's preference, a left mastectomy was performed. Postoperatively, the patient's condition stabilized, with a smooth and satisfactory recovery.</p><p><strong>Conclusions: </strong>This case demonstrates that the combined evaluation of abnormal carbohydrate antigen expression and ultrasound features can enhance the diagnostic accuracy of suspected recurrent nodules following surgery for UPS of the breast.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygosity of the Xq13.2q21.1 Region and Specific SNPs Correlates with Nonrandom X Chromosome Inactivation.","authors":"Weiqiang Liu, Lifen Zhu","doi":"10.7754/Clin.Lab.2024.241050","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241050","url":null,"abstract":"<p><strong>Background: </strong>Nonrandom X chromosome inactivation (XCI) is thought to contribute to symptom expression in female carriers of X-linked diseases, yet the mechanisms remain unclear. This study investigated the relationship between genetic factors on the X chromosome and XCI status.</p><p><strong>Methods: </strong>We used chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) to analyze five stem cell lines with nonrandom XCI and four with random XCI. We compared copy number variation (CNV), re-gions of homozygosity (ROH), single nucleotide variants (SNVs), and XCI status in these cell lines.</p><p><strong>Results: </strong>The total number of CNVs and their distribution did not differ significantly between groups. No CNVs larger than 400 kilobase pairs (Kb) on the X chromosome were detected, and no pathogenic CNVs were identified in any of the cell lines. ROH in the Xq13.2q21.1 region was present in four out of five nonrandom XCI cells but was absent in all random XCI cells. Sequencing identified an average of 27.2 and 25 nonsynonymous variants in nonrandom XCI cells and random XCI cells, respectively. Nine SNPs were specific to the X chromosome in non-random XCI cells, whereas one unique SNP was detected in random but not in nonrandom XCI cells.</p><p><strong>Conclusions: </strong>Homozygosity in the Xq13.2q21.1 region and specific SNPs may be associated with nonrandom XCI status, suggesting a potential genetic basis for XCI patterns.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Discovery of Lipid Metabolism Networks as Key Pathways in Breast Cancer via Genomic Data Integration and WGCNA.","authors":"Mohadese Safabakhsh, Nasibeh Sargazi-Moghaddam, Zahra Ourang, Elmira R Nejad, Maryam Hedayati, Mohammad R Rahgozar, Sima F Nematollahi, Saba Delasaeimarvi, Alireza Karimi, Rezvan Shahparvary, Fatemeh G Talouki, Fariborz Gholami, Alireza Azizi, Darya Zakerhamidi, Kiana Esmaeili, Setare Sadeghi, Mohammad E Golchin, Qumars Behfar, Nasrin F Dolatabadi","doi":"10.7754/Clin.Lab.2024.240909","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240909","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer remains a major global health issue, requiring innovative approaches for early detection and treatment. This study employs weighted gene co-expression network analysis (WGCNA) to uncover the complex biological processes and pathways involved in tumorigenesis by focusing on gene modules rather than individual genes. The aim of this study was to integrate multiple datasets and utilize WGCNA to identify the key genes involved in breast cancer. By combining various gene expression datasets, we aimed to identify significant gene modules and regulatory networks that contribute to breast cancer progression.</p><p><strong>Methods: </strong>Four gene expression datasets from the NCBI Gene Expression Omnibus (GEO) were integrated to explore the genetic profiles of breast cancer. Using high-throughput genomic data, WGCNA identified key regulatory networks and hub genes involved in disease progression, and RT-qPCR was performed for validation.</p><p><strong>Results: </strong>The study identified 9,707 DEGs, showing significant alterations in gene expression between tumor and adjacent normal tissues. Four critical genes, ADIPOQ, CHRDL1, FABP4, and PLIN1, were highlighted, with their expression closely linked to lipid metabolism pathways, which are crucial in breast cancer biology. Notably, ADIPOQ expression was significantly reduced in tumor samples.</p><p><strong>Conclusions: </strong>The integration of Omics data through WGCNA uncovered key interconnected gene modules, emphasizing the critical role of lipid metabolism in cancer progression. These results underscore the need for targeted therapeutic strategies to restore hub gene expression and to present potential biomarkers for early diagnosis and treatment. Moreover, lipid metabolism emerged as a pivotal pathway in breast cancer progression, suggesting that its regulation could be essential not only for targeted therapies but also for the prevention and control of the disease. This approach offers promising avenues for early intervention that could potentially reduce cancer risk.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between Insulin Resistance and Bone Turnover Markers in Girls with Idiopathic Central Precocious Puberty.","authors":"Jing Zhang, Yi-Duo Zhang, Yong-Mei Jiang, Wen-Jie Zhou, Fan Yu","doi":"10.7754/Clin.Lab.2024.240901","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240901","url":null,"abstract":"<p><strong>Background: </strong>This study was performed to investigate the influence of insulin resistance (IR) on bone turnover markers in girls with idiopathic central precocious puberty (ICPP).</p><p><strong>Methods: </strong>One hundred and sixteen ICPP girls and 91 healthy girls were enrolled in this study. The levels of total procollagen type I N-terminal propeptide (P1NP), N-terminal midfragment of osteocalcin (N-MID), β-C-terminal telopeptide of type 1 collagen (β-CTX), insulin, and other biochemical parameters were detected.</p><p><strong>Results: </strong>The serum P1NP and β-CTX levels were significantly different between the non-IR and IR groups and the control group (p < 0.05). Serum N-MID was not significantly different among the groups (p > 0.05). The serum P1NP level was negatively correlated with vitamin D (r = -0.162, p < 0.05) and positively correlated with homeostatic model assessment for IR (r = 0.160, p < 0.05).</p><p><strong>Conclusions: </strong>The influence of ICPP on bone turnover markers may be associated with IR for girls with ICPP. Strict blood glucose control and insulin regulation appear to play an extremely important role in restoring bone metabolism status in ICPP girls.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Macro-TSH Interference in Thyroid Function Testing: a Case Report and Literature Review.","authors":"Hong-Gang Sun, Li-Qin He","doi":"10.7754/Clin.Lab.2024.241048","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241048","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;TSH (Thyroid-Stimulating Hormone) is a key hormone secreted by the pituitary gland, which controls the production and release of thyroid hormones (T4) and triiodothyronine (T3) through a negative feedback mechanism. TSH plays a crucial role in the diagnosis and treatment of various thyroid diseases; however, TSH testing may be affected by a variety of factors, leading to inaccurate test results. The main interferents include heterophilic antibodies, thyroid hormone autoantibodies (THAb), and macro-TSH. These interferents may cause TSH test results to be falsely elevated or reduced.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;In thyroid function testing, chemiluminescence immunoassay (CLIA) is a commonly used technique that uses chemiluminescence-labeled antibodies to detect specific levels of thyroid hormones and TSH. In this case, the patient had no history of thyroid disease. When thyroid test results do not match clinical symptoms, and the changes in TSH, free triiodothyronine (FT3), and free thyroxine (FT4) do not conform to the rules, it is necessary to exclude the presence of test interferents. The patient had no history of rodent contact, so interference from heterophilic antibodies was temporarily not considered. Our laboratory's preferred method for excluding interference from large molecular substances is PEG6000 treatment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Routine thyroid function tests showed a TSH level of 16.1751 µIU/mL, higher than the normal reference range (0.3500 - 4.9400 µIU/mL). FT3 was 3.47 pmol/L (reference range 2.43 - 6.01 pmol/L), FT4 was 13.10 pmol/L (reference range 9.01 - 19.05 pmol/L), TT3 was 0.96 nmol/L (reference range 0.88 - 2.33 nmol/L), and TT4 was 74.12 nmol/L (reference range 62.68 - 150.84 nmol/L). After treatment with the PEG6000 precipitation method, the TSH test result in the patient's serum dropped to 0.98 µIU/mL, within the normal range.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;TSH testing is crucial for the diagnosis and treatment of thyroid diseases. Accurate TSH levels are essential for determining thyroid function status, guiding treatment plans, and monitoring disease progression; this case emphasizes the importance of identifying and excluding the influence of interfering factors in thyroid function testing. Interfering factors, such as the presence of macro-TSH, can lead to clinical misdiagnosis and mis-treatment. The mechanism and clinical significance of macro-TSH formation are not yet fully elucidated, and the combination of anti-TSH antibodies with TSH may be the main cause of macro-TSH formation. All macro-TSH patients show positive anti-TSH antibodies, but not all patients with positive anti-TSH antibodies will form macro-TSH. When thyroid function test results do not match clinical symptoms or the changes in TSH, FT3, and FT4 do not conform to the rules, it is necessary to exclude the presence of test interferents such as macro-TSH. In this case, the normalization of TSH levels","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends and Incidence of Transfusion Reactions: a Single-Center 5-Year Retrospective Analysis.","authors":"Ying-Ju Chen, Chih-Lung Lin, Tze-Kiong Er","doi":"10.7754/Clin.Lab.2024.241101","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241101","url":null,"abstract":"<p><strong>Background: </strong>Transfusion reactions, including allergic and febrile non-hemolytic responses, remain a safety concern despite advancements in donor screening and leukocyte reduction. Understanding the incidence and contributing factors of these reactions is essential for enhancing transfusion practices and patient safety.</p><p><strong>Methods: </strong>This study retrospectively analyzed transfusion reactions at our institution from January 2019 to August 2024. Data from hemovigilance records were reviewed to identify the incidence, types, and severity of reactions.</p><p><strong>Results: </strong>An overall reaction rate of 0.28% was observed, with itching/urticaria, chills, and fever as the most common types. These findings align with global reports, indicating the effectiveness of the implemented preventive strategies in minimizing severe reactions.</p><p><strong>Conclusions: </strong>This study highlights the importance of individualized patient protocols and continuous monitoring to reduce transfusion risks. Preventive strategies, such as leukocyte reduction, premedication for high-risk patients, and vigilant observation during transfusions, have proven effective in limiting reaction severity. By providing insights into transfusion reaction patterns, this analysis supports efforts to enhance patient safety and optimize transfusion practices through targeted quality improvements.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying TP53 Copy Number Variations in Hematologic Malignancies with a Digital PCR Method.","authors":"Wei Zhao, Dongming Yao, Qian Yuan, Jiang Lin, Di Yu, Jun Qian","doi":"10.7754/Clin.Lab.2024.241051","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.241051","url":null,"abstract":"<p><strong>Background: </strong>Tumor protein p53 (TP53) is a well-known tumor suppressor gene, of which allelic status has widely been raising concern in recent years. Copy number (CN) loss in this gene results in either haploinsufficiency or loss of function. Though detection methods like next generation sequencing (NGS) or array-based comparative genomic hybridization (aCGH) can be applied, the accurate and cost-effective identification of copy number variation (CNV) remains a challenge for in-hospital laboratories.</p><p><strong>Methods: </strong>In this study, we developed a digital PCR method to quantify the TP53 copy number in hematologic malignancies. Two Taqman probes were designed to be placed at the 5th and 7th exons of TP53 gene, while another one was placed at the RPP30 gene. By performing the experiments with the DNA of 102 healthy checkup individuals and two leukemia cell lines, we established the characteristics of the assay performance, including the limits of blank (LOB), the limits of detection (LOD), the linearities, and the coefficients of variation at the LOD levels. Forty-two samples from patients newly diagnosed with leukemia, lymphoma, myeloma, or myelodysplastic syndrome were further tested for validation. The results were then compared with other reports related to their allelic statuses of TP53.</p><p><strong>Results: </strong>The lower LOB of the exon 5 and exon 7 were revealed to be 1.756 and 1.836 copies per genome, respectively, while the upper limits were 2.008 and 2.041. The LOD for CN loss of two exons were 1.692 and 1.777 copies per genome, respectively. Taking NGS results as reference, 1.716 and 1.786 copies per genome for exon 5 and exon 7, respectively, were decided as the cutoff values for CN loss using the receiver operator curve (ROC) method. The areas under curve (AUC) for both exons reached 1.</p><p><strong>Conclusions: </strong>All in all, we consider dPCR an excellent tool for identifying TP53 CNV status in hematologic malignancies.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}