Clinical laboratory最新文献

{"title":"Molecular Mechanism of Anti-e Like Antibodies in RhDCCee Phenotypic Individuals.","authors":"Wu Chang-Lin, Cai Zhong-Ren, Li Guang-Qiu, Yi Pin, Ye Zhi-Shun, Shao Chaopeng","doi":"10.7754/Clin.Lab.2025.250105","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250105","url":null,"abstract":"<p><strong>Background: </strong>The aim was to investigate the serotype characteristics and molecular mechanism of anti-e like antibody production in individuals with RhDCCee phenotype from a patient with PTR.</p><p><strong>Methods: </strong>ABO, RhD, and RhCcEe blood groups were identified by micro-column gel card, the irregular antibody screening and antibody specificity were identified by anti-human globulin assay. RHD and RHCE genes were typed by PCR-SSP, RHD/RHCE sequences were analyzed by first generation and third generation full-length sequencing.</p><p><strong>Results: </strong>ABO and Rh phenotypes were type O and RhDCCee. The irregular antibodies were positive and specific antibodies were anti-e. PCR results showed that RHD exons 1 - 10 were all positive, while RHCE exons 1, 3 - 10 were positive, exon 2 was negative. The first-generation sequencing of RHD/RHCE showed that RHD exons 1 - 10 were without mutations, RHCE exons 1 and 2 had common point mutations, no novel mutation point was found in exons 3 - 10. The full-length sequencing of RHD/RHCE showed that the new allele of RHD*01 could not be con-firmed, and a sequencing depth decrease was found in exon 3 region. The RHCE two haploids were all Ce and the alleles were RHCE*02 or RHCE*Ce. The mutation site of RHCE exons were the same as that of the first-generation sequencing; however, the three generations of full-length sequencing showed that the RHCE exon 2 and 3 were very low in sequencing depth and there might be structural variation.</p><p><strong>Conclusions: </strong>The molecular mechanism of anti-e like antibodies in RhDCCee phenotype individuals is not completely clear. Three generation full-length sequencing indicated that this phenomenon may be caused by structural variation of RHD/RHCE genomic.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636365","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":"A Novel Nomogram Incorporating Clinical and Thromboelastographic Variables for Predicting Mortality in ICU Sepsis Patients.","authors":"Wanling Xu, Nan Gao, Wei Li, Li Pang","doi":"10.7754/Clin.Lab.2025.250108","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250108","url":null,"abstract":"<p><strong>Background: </strong>Sepsis is a life-threatening multi-organ dysfunction syndrome. Accurate prediction of sepsis prognosis is a significant challenge. This study aimed to construct and validate a nomogram for predicting 28-day mortality in sepsis patients in the intensive care unit.</p><p><strong>Methods: </strong>In this retrospective study, we analyzed data from sepsis patients admitted to the intensive care unit from January 2018 through December 2023. Clinical and laboratory data, including thromboelastographic results, were collected. Significant variables identified through univariate and multivariate logistic regression analyses were used to develop a 28-day mortality prediction nomogram. We assessed the nomogram's performance using the area under the receiver operating characteristic (ROC) curve, calibration plots, and the Hosmer-Lemeshow test. Decision curve analysis was employed to evaluate the nomogram's clinical utility.</p><p><strong>Results: </strong>The study included 1,188 patients assigned to training (736) and validation (452) cohorts. Multivariate logistic regression identified age, presence of solid tumors, recent surgery, coagulation index, and lactic acid level as predictors of 28-day mortality. The resulting nomogram demonstrated an area under the ROC curve of 0.84 (95% CI: 0.76 - 0.91) in the training cohort and 0.81 (95% CI: 0.69 - 0.94) in the validation cohort. Both the Hosmer-Lemeshow test and calibration plots confirmed the nomogram's robust performance in mortality prediction. Additionally, decision curve analysis indicated high clinical practicability.</p><p><strong>Conclusions: </strong>This newly developed robust nomogram, incorporating age, solid tumor status, surgical history, coagulation index, and lactic acid level, could accurately predict 28-day mortality in sepsis patients in the intensive care unit, offering valuable prognostic insights for clinical decision-making.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636375","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":"Predicting the Requirement of Blood Purification in Sepsis Disease Population: Development and Assessment of a New Nomogram.","authors":"Qingzhan Lan, Shanshan He, Chao Lu, Cheng Huan","doi":"10.7754/Clin.Lab.2025.240936","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.240936","url":null,"abstract":"<p><strong>Background: </strong>Sepsis is the leading cause of death for critically ill patients worldwide, and blood purification technology is an effective method for rapidly improving and treating sepsis. At present, there is a lack of sufficient clinical data on the timing of blood purification intervention for sepsis patients in China. This study aimed to develop an effective and straightforward tool for predicting the need for blood purification in the sepsis population using an evaluation model.</p><p><strong>Methods: </strong>A total of 346 patients were enrolled in the study. The patients were divided into two groups: the blood purification group (n = 80) and the non-blood purification group (n = 266). Demographic information, medical history, clinical performance, laboratory results, and treatment characteristics were extracted from the medical records of all participants. The optimal predictive risk factors were selected using the least absolute shrinkage and selection operator (LASSO) method to reduce the high-dimensional data. Multivariate logistic regression analysis and the creation of a nomogram were performed using R software (3.1.1). The model's discrimination, calibration, and clinical utility were evaluated using the C-index, calibration plot, and decision curve analysis, respectively. The 95% confidence interval (CI) for the calculated odds ratio (OR) was also estimated.</p><p><strong>Results: </strong>The novel predictive nomogram, developed using β2-microglobulin (BMG), urea nitrogen (BUN), acute kidney injury (AKI), neutrophil gelatinase-associated lipocalin (NGAL), uric acid (URIC), and estimated glomerular filtration rate (eGFR), could be easily applied to predict the appropriate timing for blood purification. Using the nomogram to predict the risk of requiring blood purification provided greater benefits than the standard method.</p><p><strong>Conclusions: </strong>Our findings provide an effective prediction model that will assist clinicians in identifying the optimal time for blood purification.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636398","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":"Value of Serum Markers in Evaluating the Curative Effect of Immune Checkpoint Inhibitors for Lung Cancer.","authors":"Yan Chen, Endong Wu, Yifeng Ma, Guangli Shi","doi":"10.7754/Clin.Lab.2024.240432","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2024.240432","url":null,"abstract":"<p><strong>Background: </strong>In recent years, immune checkpoint inhibitors (ICIs) have been widely used in the treatment of lung cancer, and they significantly improve the survival rate of patients. However, the benefit rate of ICIs immunotherapy for lung cancer patients is only 15 - 40%. It is necessary to find effective and reliable biomarkers for evaluating the curative effect to achieve accurate immunotherapy for lung cancer. Therefore, the objective of this study was to analyze the value of response evaluation through detecting serum neuron-specific enolase (NSE), pro-gastrin-releasing peptide (pro-GRP), cytokeratin 19 fragment (Cyfra21-1), squamous cell carcinoma antigen (SCC), and carcinoembryonic antigen (CEA) in the lung cancer patients treated with ICIs.</p><p><strong>Methods: </strong>The levels of serum NSE, pro-GRP, Cyfra21-1, SCC, and CEA in the lung cancer patients of pre- and post-immunotherapy with ICIs were detected by flow fluorescence method.</p><p><strong>Results: </strong>The serum levels of NSE, pro-GRP, Cyfra21-1, SCC, and CEA in the patients with partial remission were decreased after ICIs immunotherapy of 2 cycles, and the difference was statistically significant (p < 0.05). The serum levels of Cyfra21-1, CEA, and SCC in the patients with stable disease were significantly decreased (p < 0.05). The serum levels of NSE, pro-GRP, Cyfra21-1, SCC, and CEA in the patients with disease progression were signi-ficantly increased (p < 0.05). The percentages of positive NSE or pro-GRP in the SCLC patients before treatment were significantly higher than these of NSCLC patients (p < 0.001). The percentages of positive Cyfra21-1 or SCC in the NSCLC patients before treatment were significantly higher than these of SCLC patients (p < 0.001). There was no significant difference between positive CEA in the NSCLC and SCLC patients before treatment (p > 0.05). The sensitivities of NSE, pro-GRP, Cyfra21-1, SCC, and CEA in evaluating the efficacy of immunotherapy were 92.3%, 84.6%, 95.4%, 96.7%, and 81.3%.</p><p><strong>Conclusions: </strong>The changed levels of serum NSE, pro-GRP, Cyfra21-1, SCC, and CEA in the lung cancer patients in pre- and post-immunotherapy with ICIs were related to the therapeutic effect and may be used for the response evaluation. The SCLC patients should choose serum NSE, pro-GRP, and CEA for the response evaluation of ICIs immunotherapy, and the NSCLC patients should choose serum Cyfra21-1, SCC, and CEA.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636399","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":"Overlooked Pneumonia-Like Lung Cancer with Elevated Neutrophils and Typical Pneumonia Imaging findings.","authors":"Xuan M Mao, Ai J Guo, Xin H Yuan, Ming Y Cui, Di Zhang, Yan L Ge, Guo G Sun","doi":"10.7754/Clin.Lab.2025.241253","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.241253","url":null,"abstract":"<p><strong>Background: </strong>Pneumonia-type lung cancer is a specific type of lung cancer with low incidence, lack of clinical specificity, and strong imaging similarity to pneumonia, which can be easily misdiagnosed as a lung infection.</p><p><strong>Methods: </strong>We report a special case of a patient who was misdiagnosed as Mycoplasma pneumonia by routine blood tests, bronchoscopy, NGS of alveolar lavage fluid and combined with the patient's lung CT imaging features, and then was definitively diagnosed as lung adenocarcinoma by percutaneous lung puncture.</p><p><strong>Results: </strong>The patient's solid shadow in the right lower lung remained unabsorbed after aggressive anti-infection, and finally the diagnosis of lung adenocarcinoma was finally clarified by percutaneous lung puncture.</p><p><strong>Conclusions: </strong>In middle-aged and elderly patients with a first diagnosis of lung infection, if the exudate shadow remains unabsorbed after aggressive empirical anti-infective treatment, the infection should be aggressively investigated for specific pathogens such as Mycobacterium tuberculosis, nontuberculous mycobacteria, fungi, adenoviruses, etc., and in addition to that, malignant lesions should also be investigated.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636369","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":"Diagnostic Accuracy of a Simplified Interferon-Gamma Composite Index for Tuberculosis.","authors":"Longying Wang, Xiaojuan Cui, Tao Wang, Lei Xu, Mingqiu Mao, Zhilong Liu","doi":"10.7754/Clin.Lab.2025.241109","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.241109","url":null,"abstract":"<p><strong>Background: </strong>Tuberculosis (TB) is one of the most severe infectious diseases worldwide, making early and accurate diagnosis critical for improving patient outcomes. The interferon-gamma release assay (IGRA) is a commonly used diagnostic tool for TB. This study aimed to develop a simplified composite index to enhance the diagnostic accuracy and performance for TB.</p><p><strong>Methods: </strong>This study included patients with suspected TB who visited our hospital between January 2022 and December 2023. The patients were categorized into three groups: pulmonary tuberculosis (PTB), extrapulmonary tuberculosis (EPTB), and non-tuberculosis (non-TB). A retrospective analysis of their clinical data and laboratory test results was conducted. We developed a Simplified Interferon-Gamma Composite Index (SIGCI) by integrating the IGRA, lymphocyte count, and adenosine deaminase (ADA). The diagnostic performance of SIGCI for PTB and EPTB was assessed using receiver operating characteristic (ROC) curve analysis.</p><p><strong>Results: </strong>Among the 355 suspected TB patients, 84 were diagnosed with PTB, 68 with EPTB, and 203 with non-TB, resulting in a TB confirmation rate of 42.82%. In the PTB group, the proportion of male patients was significantly higher than in the EPTB and non-TB groups (73.81% vs. 52.94% vs. 56.59%, p < 0.05). Compared to the non-TB group, lymphocyte counts were significantly lower, while ADA levels were significantly higher in both the PTB and EPTB groups (p < 0.05). Spearman correlation analysis revealed a positive correlation between the IFN-γ release response value and lymphocyte count in both the PTB and EPTB groups (p < 0.05), However, there was no correlation between the IFN-γ release response value and lymphocyte count in the non-TB group (p > 0.05). The ROC curve analysis of the SIGCI for PTB diagnosis showed an area under the curve (AUC) of 0.854, with an optimal cutoff value of 200.7, sensitivity of 84.34%, and specificity of 80.79%. For EPTB diagnosis, the AUC of SIGCI was 0.909, with an optimal cutoff value of 159.2, sensitivity of 94.03%, and specificity of 79.19%. Compared to the use of IFN-γ release values and ADA alone, SIGCI demonstrated a significant advantage in the diagnosis of both PTB and EPTB.</p><p><strong>Conclusions: </strong>The SIGCI developed in this study demonstrated excellent diagnostic performance for both PTB and EPTB, showing significant potential to improve the accuracy of early TB diagnosis.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636297","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":"Bioinformatics-Based Identification of Platelet-Related Genes and Analysis of Immune Infiltration Landscape in Endometriosis.","authors":"Wanjun Chen, Jinlong Song, Wenqing Huang, Xiujing Han, Jinmu Zhuang, Shaochang Li","doi":"10.7754/Clin.Lab.2025.241004","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.241004","url":null,"abstract":"<p><strong>Background: </strong>Endometriosis is an estrogen-dependent inflammatory disease that is the leading cause of dysmenorrhea, infertility, and pelvic pain in women. A growing body of evidence has demonstrated that platelets may play an important role in its pathophysiology. Therefore, using bioinformatics analysis, we sought to determine the possible role of platelet-related genes in endometriosis and immune infiltration.</p><p><strong>Methods: </strong>GSE7305 and GSE51981 were used to identify differentially expressed genes (DEGs) in endometriosis. By crossing DEGs with platelet-related genes, the platelet-related DEGs were screened. Functional enrichment analyses were conducted. Then, the hub genes were identified using two machine algorithms, and receiver operating characteristic (ROC) curves were generated. Finally, the immune infiltration landscape and its connection with hub genes in endometriosis were assessed.</p><p><strong>Results: </strong>Six platelet-related hub genes (CD40, CSRP1, FLNA, C1GALT1C1, EIF2AK1, and PTMA) were screened out, and these genes showed high diagnostic specificity for endometriosis. Most immune cells exhibited higher infiltration levels in endometriosis. The abundance of activated B cells, myeloid-derived suppressor cells (MDSCs), macrophages, mast cells, monocytes, natural killer (NK) cells, neutrophils, T follicular helper cells, and type 1 T helper (Th1) cells in the endometriosis group was significantly higher than that in the control group, while activated CD4 T cells and immature dendritic cells were considerably less abundant. Correlation analysis revealed a link between hub genes and immune infiltration.</p><p><strong>Conclusions: </strong>Six hub platelet-related genes were identified and correlated with immune infiltration in endometriosis. Our research suggested that platelets may regulate the immune microenvironment of the endometriosis through signaling pathways involved in these genes, thereby contributing to its development and progression of endometriosis. These findings increase our understanding of endometriosis and may provide promising targets for disease treatment.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636380","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":"Dynamic Changes in Functional CTL and NK Lymphocyte Subsets in the Early Stage After Renal Transplantation.","authors":"Qin Xu, Yating Liu, Beibei Sun, Yuanyuan Wu, Mengqi Ruan, Qiang Zhou, Qin Wang, Hao Zhang","doi":"10.7754/Clin.Lab.2025.241245","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.241245","url":null,"abstract":"<p><strong>Background: </strong>Functional lymphocytes play a pivotal role in renal injury and rejection following transplantation. Understanding their dynamic changes is essential for evaluating renal allograft function and predicting rejection. However, the early postoperative dynamics of these subsets and their relationship with renal function remain unclear. This study investigated the early postoperative changes in functional CD3+CD8+T (CTL) and CD3-CD16+56+T (NK) lymphocyte subsets in the peripheral blood of renal transplant recipients and their correlation with renal function.</p><p><strong>Methods: </strong>Peripheral blood samples were collected from patients undergoing their first renal transplantation at 1, 2, and 3 weeks postoperatively. Flow cytometry was used to quantify CTL and NK lymphocyte subsets, with granzyme B (Gzm B+) and interferon-gamma (IFNγ+) expression serving as markers of cytotoxic function. Changes in these lymphocyte subsets and their correlation with renal function markers, including serum creatinine levels, were analyzed.</p><p><strong>Results: </strong>Serum creatinine levels significantly decreased at 2 weeks compared to 1 week (p = 0.009) and stabilized by 3 weeks (p > 0.05), indicating substantial renal recovery. The proportion of CD3+T and CTL cells increased significantly at 2 weeks (p < 0.001 and p = 0.012, respectively) but showed no further changes by 3 weeks (p > 0.05). Conversely, NK cell proportions decreased significantly at 2 weeks (p = 0.011) and remained unchanged thereafter. Both Gzm B+CTL and IFNγ+CTL cell proportions decreased significantly from 1 to 2 weeks (p < 0.001 and p = 0.006, respectively) and stabilized at 3 weeks. While IFNγ+NK cell proportions remained unchanged across all time points (p > 0.05), Gzm B+NK cells increased from 2 to 3 weeks. Serum creatinine levels were negatively correlated with CD3+ T (r = -0.371, p = 0.003) and CTL cell proportions (r = -0.366, p = 0.003) and positively correlated with Gzm B+CTL (r = 0.418, p < 0.001) and IFNγ+CTL cell proportions (r = 0.377, p = 0.003).</p><p><strong>Conclusions: </strong>Functional CTL cells exhibit significant dynamic changes during the early postoperative period, stabilizing by 3 weeks. These changes are strongly correlated with serum creatinine levels, suggesting their potential as biomarkers for renal allograft function.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636299","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":"Improving ABO Blood Typing Accuracy: Evaluating an Enhanced Test Method for Weak Serum Reactions.","authors":"Seung Hwan Oh, Hyunji Lee","doi":"10.7754/Clin.Lab.2025.250135","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.250135","url":null,"abstract":"","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636364","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":"Molecular, Clinical Features, and Prognostic Implications of PTPN11 Mutation in Adult Patients with Acute Myeloid Leukemia in China.","authors":"Lingrong He, Hongjuan Yu","doi":"10.7754/Clin.Lab.2025.241242","DOIUrl":"https://doi.org/10.7754/Clin.Lab.2025.241242","url":null,"abstract":"<p><strong>Background: </strong>Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by genetic mutations and chromosomal abnormalities that significantly influence disease progression and outcomes. While PTPN11 mutations have been extensively studied in pediatric leukemia, their clinical significance in adult AML, particularly in the Chinese population where they exhibit a relatively rare prevalence, remains poorly understood.</p><p><strong>Methods: </strong>This retrospective single-center study analyzed 22 adult AML patients with PTPN11 mutations diagnosed between 2018 and 2023. Next-generation sequencing (NGS) was performed to detect PTPN11 and other AML-associated gene mutations, while cytogenetic risk stratification followed the European Leukemia Net (ELN) 2022 guidelines. Kaplan-Meier survival analysis and Cox regression were used to assess prognostic factors, with a focus on overall survival (OS) and event-free survival (EFS).</p><p><strong>Results: </strong>Among the 22 patients with PTPN11 mutations, 27% also harbored FLT3-ITD mutations. Patients with FLT3-ITD mutations had significantly lower platelet counts (p = 0.02) and higher albumin levels (p = 0.039) com-pared to FLT3-ITD wild-type patients. The most common co-occurring mutations in PTPN11-positive patients were NPM1 (45.5%) and DNMT3A (36.4%). Survival analysis revealed that FLT3-ITD mutations were associated with poorer OS and EFS, while NPM1 mutations predicted better outcomes. Importantly, the prognostic impact of PTPN11 appeared to depend on co-occurring mutations, with NPM1 mitigating the adverse effects of FLT3-ITD.</p><p><strong>Conclusions: </strong>This study highlights the molecular and clinical heterogeneity of PTPN11 mutations in AML, emphasizing their prognostic complexity and the need for integrated molecular profiling. These findings provide valuable insights into the role of PTPN11 mutations and underscore the importance of personalized treatment approaches based on genetic risk stratification.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 7","pages":""},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636366","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}