Laboratory medicine最新文献

{"title":"KIT amplitude-based multiplex droplet digital polymerase chain reaction outperforms direct sequencing for sensitive KIT D816 genotyping in core binding factor acute myeloid leukemia.","authors":"Shumpei Mizuta, Noriko Bandai, Saya Yoshida, Hiroshi Takashima, Yuka Ohashi, Asami Watanabe, Marina Kawano, Takeshi Ueshimo, Kazuhiro Bandai, Kensuke Fujiwara, Naoko Hiranuma, Takahito Kawata, Akira Tamekane, Mitsumasa Watanabe","doi":"10.1093/labmed/lmaf031","DOIUrl":"https://doi.org/10.1093/labmed/lmaf031","url":null,"abstract":"<p><strong>Introduction: </strong>The prognosis of acute myeloid leukemia is stratified by genetic abnormalities; however, the detection sensitivity varies by method. The KIT D816 mutation is frequently found in core binding factor leukemia and is associated with a poor prognosis. In this study, we aimed to investigate the performance of multiplex droplet digital polymerase chain reaction (ddPCR) for detecting KIT D816 mutations and propose the practical mutation analysis method for clinical laboratory testing.</p><p><strong>Methods: </strong>We evaluated the detection limit of ddPCR using mixed probes for HEX-labeled wild-type and FAM-labeled mutations (D816V, D816Y, and D816H) by analyzing plasmid mixtures containing these sequences. We compared the frequency of KIT mutations detected by direct sequencing and ddPCR in 20 patients with core binding factor leukemia.</p><p><strong>Results: </strong>Multiplex ddPCR successfully discriminated between mutation types based on plot positions on a 2-dimensional map, with a detection limit of 0.1%. The frequency of D816 mutations was 42.5% using ddPCR and 20% using direct sequencing. Most patients with KIT D816 mutation require hematopoietic stem cell transplantation for chimeric gene clearance.</p><p><strong>Discussion: </strong>Amplitude-based multiplex ddPCR efficiently provides sensitive and accurate genotyping of KIT D816 and has potential applications for other genetic abnormalities.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amylase-producing lung adenocarcinoma with an anaplastic lymphoma kinase fusion mutation: a case report.","authors":"Shuqing Yang, Wenbin Li, Difeng Guo, Chenshi Lin, Jun Xu, Yan Li, Mengru Jian, Meiqi Wang, Cai Zhiqiang","doi":"10.1093/labmed/lmaf017","DOIUrl":"https://doi.org/10.1093/labmed/lmaf017","url":null,"abstract":"<p><strong>Introduction: </strong>Hyperamylasemia, typically a sign of digestive system disorders, especially pancreatic issues, has an unexpected link with lung cancer in some patients. This report describes such a case in which hyperamylasemia was associated with ALK fusion mutant lung adenocarcinoma.</p><p><strong>Methods: </strong>We identified the type of tumor through histologic analysis and pulmonary biopsy of the tumor and further identified the type of genetic mutation in the tumor using genetic testing. Subsequently, we continuously monitored the serum amylase levels and tumor size during therapy, and this process presented an analysis on the correlation between hyperamylasemia and lung adenocarcinoma while considering the response to targeted therapy.</p><p><strong>Results: </strong>During the detailed research and observation process, we surprisingly discovered that the serum amylase levels throughout the entire course of therapy exhibited a remarkable parallelism with tumor size and the tumor response to targeted therapy.</p><p><strong>Discussion: </strong>We suggest that serum amylase may be a tumor marker that may lead to a more effective approach to the diagnosis and treatment of related diseases.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analyzing the impact of the FISH! Philosophy on postpandemic workplace culture in an academic medical laboratory setting.","authors":"Lynn A McCain, Melina L Adler, Karen Barron, Gloria Barkley, Chris Distelrath, Julene Pummill, Kamran M Mirza, Jeffrey L Myers","doi":"10.1093/labmed/lmaf010","DOIUrl":"https://doi.org/10.1093/labmed/lmaf010","url":null,"abstract":"<p><strong>Introduction: </strong>The post-COVID-19 work environment has seen widespread employee disengagement and increased turnover rates. To combat this negative cultural shift, the pathology department at a large academic medical center launched a culture-change initiative using the FISH! Philosophy program in fall 2023.</p><p><strong>Methods: </strong>Employees were invited to participate in FISH! Philosophy training and completed a baseline survey before attending (n = 125), a pulse survey at the conclusion of their session (n = 86), and a follow-up survey after 3 to 6 months (n = 53).</p><p><strong>Results: </strong>Employees responded positively to the training (94.1%). Improvement in job satisfaction (4.2% increase) and improved culture (reported by 49%) were noted, along with improvements in other key categories related to interpersonal relationships. Trust, however, saw a statistically significant decline (4.4%). Free-text comments were included in 42% of follow-up surveys, indicating that FISH! practices continue to be implemented in their work areas.</p><p><strong>Discussion: </strong>Although early results are mixed, positive movement has been observed in employee attitudes and behaviors. As more employees, and especially faculty and leadership, are trained, we anticipate that less resistance will be encountered, and lasting culture change will occur.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of capillary electrophoresis-high-resolution mass spectrometry to diagnose 2 rare hemoglobin variants in the San Francisco Bay area.","authors":"Chenyin Lu, Carolyn V Wong, Priscilla S W Yeung, Ruben Y Luo","doi":"10.1093/labmed/lmaf029","DOIUrl":"https://doi.org/10.1093/labmed/lmaf029","url":null,"abstract":"<p><strong>Introduction: </strong>Hemoglobin (Hb) variants are genetic disorders that lead to structural impairment of Hb. Most of these disorders lack clinical symptoms and are typically detected through prenatal, newborn, or routine health screenings. Hemoglobinopathy evaluation typically starts with screening tests performed by electrophoresis or liquid chromatography. In some cases, on top of the conventional test results, racial or geographic information is incorporated to assess high-risk populations for certain mutations, but this addition can also at times be misleading.</p><p><strong>Methods: </strong>This report presents 2 rare cases of Hb variants in the San Francisco Bay area that were diagnosed using the capillary electrophoresis-high-resolution mass spectrometry (CE-HR-MS) method: Hb New York trait in case 1 and Hb Al-Ain Abu Dhabi trait in case 2.</p><p><strong>Results: </strong>Overall, these results demonstrate the utility of CE-HR-MS as an updated approach to definitively diagnose hemoglobin variants.</p><p><strong>Discussion: </strong>CE-HR-MS has the potential to be implemented into clinical practice as an alternative diagnostic method to gene sequencing.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analytical performance of an assay for ergosterol, a potential biomarker for Naegleria fowleri in cerebrospinal fluid.","authors":"Stephen P Friedrichs, Christopher D Doern, Melissa J Jamerson, William J Korzun","doi":"10.1093/labmed/lmaf030","DOIUrl":"https://doi.org/10.1093/labmed/lmaf030","url":null,"abstract":"<p><strong>Introduction: </strong>Naegleria fowleri is a pathogenic free-living amoeba that causes primary amoebic meningoencephalitis, a rare and difficult-to-diagnose form of meningitis. By testing patient cerebrospinal fluid (CSF) for ergosterol, a membrane component unique to fungi and amoeba, cases of primary amoebic meningoencephalitis may be distinguished from cases of bacterial and viral meningitis.</p><p><strong>Methods: </strong>Pooled CSF was fortified with ergosterol, extracted, filtered, and measured by liquid chromatography-tandem mass spectrometry. Measurement method precision, sensitivity, recovery, and stability were evaluated. In vitro cell cultures of N fowleri and a sample (n = 200) of deidentified residual patient CSF specimens were also tested for ergosterol.</p><p><strong>Results: </strong>Ergosterol remained stable in CSF at 4 °C and -80 °C. The mean variation and total error of the method were 7.4% and 15.8%, respectively. The method limit of quantification (LOQ) was 1.0 ng/mL, which translated to an in vitro LOQ of 2650 cells/mL or higher. A trace of ergosterol, below the LOQ, was detected in a patient specimen positive for cryptococcal meningitis but not in any other CSF specimens.</p><p><strong>Discussion: </strong>Ergosterol can be reliably detected in spiked human CSF samples and in the supernatant of N fowleri CSF cultures at concentrations of 1.0 to 500 ng/mL. The clinical utility of this method, however, requires further exploration.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144487580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating rapid antimicrobial susceptibility testing directly from positive blood cultures for Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa in Chinese hospitals.","authors":"Zhu Mei, Xin-Lu Bai, Dong-Mei Huang, Qiao-Lin Zhang, Ling Yan","doi":"10.1093/labmed/lmaf018","DOIUrl":"https://doi.org/10.1093/labmed/lmaf018","url":null,"abstract":"<p><strong>Introduction: </strong>We sought to assess whether rapid antimicrobial susceptibility testing (AST) directly from positive blood culture bottles for Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa can be used in Chinese hospitals.</p><p><strong>Methods: </strong>Rapid AST was performed on each positive blood culture bottle. Categorical rapid AST results at 8 to 10 and 16 to 18 hours were compared with those from the VITEK 2 system (bioMérieux). Minimum inhibitory concentrations and zone diameter were interpreted according to Clinical and Laboratory Standards Institute (CLSI) standard M100-S34, published in 2024.</p><p><strong>Results: </strong>At 8 to 10 hours, the overall categorical agreement for E coli, K pneumoniae, and P aeruginosa was 99.1%, 98.4%, and 95.8%, respectively. At 16 to 18 hours, these rates were 97.4%, 98.9%, and 99.1%, respectively. For E coli, the categorical agreement ranged from 97.2% (ceftazidime at 8-10 hours) to 100% (ampicillin and meropenem at 8-10 and 16-18 hours and ciprofloxacin at 16-18 hours). The categorical agreement for K pneumoniae varied from 96.5%with ceftazidime at 8 to 10 hours to 100% with meropenem and ciprofloxacin at 16 to 18 hours. For P aeruginosa, the categorical agreement ranged from 93.7% (meropenem at 8-10 hours) to 100% (ciprofloxacin at 16-18 hours).</p><p><strong>Discussion: </strong>The CLSI rapid AST method is reliable for E coli, K pneumoniae, and P aeruginosa in Chinese hospitals.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance metrics for machine learning solutions in laboratory medicine.","authors":"Nicholas C Spies, David P Ng","doi":"10.1093/labmed/lmaf013","DOIUrl":"https://doi.org/10.1093/labmed/lmaf013","url":null,"abstract":"<p><p>Machine learning-based solutions to laboratory medicine problems have become commonplace in literature, but real-world implementations remain rare, in no small part because of the substantial investment required to incorporate such solutions into routine clinical care. A crucial step in advancing a machine learning solution from proof of concept into clinical application is a robust and comprehensive evaluation of its performance. In this review, we discuss the common methods, best practices, and potential pitfalls in evaluating machine learning-based solutions to clinical laboratory problems.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of anti-M antibodies on patient blood typing and transfusion safety: a retrospective study.","authors":"Xusheng Chen, Shilong Zhang, Jingyi Bi, Mengya Wei, Jianjun Han, Peng Li, Yongtao Yang","doi":"10.1093/labmed/lmaf022","DOIUrl":"https://doi.org/10.1093/labmed/lmaf022","url":null,"abstract":"<p><strong>Background: </strong>Anti-M antibodies are a group of frequently detected, naturally occurring antibodies, most of which are immunoglobulin M (IgM) antibodies, inactive at 37 °C, and clinically insignificant in blood transfusion experiments, except for their effect on blood groups. Anti-M antibodies may be clinically significant in some exceptional cases, however, such as cardiac surgery, when the core body temperature drops, resulting in hemolytic transfusion reactions. The present study was conducted to explore the interference caused by the presence of anti-M antibodies on blood group identification, analyze the necessity of detecting such antibodies in advance for transfusion compatibility testing and clinical transfusion, and explore the importance of O-antigen erythrocytes in routine blood typing, especially in screening for IgM-class antibodies.</p><p><strong>Methods: </strong>This study was initiated by collecting blood typing specimens from January 2021 to December 2023 in the Blood Transfusion Department, where the O cell control tubes showed agglutination in the blood group reverse serotyping, which were ultimately determined to be influenced by the anti-M antibodies. This study further analyzed the absorption of plasma using M antigen-positive type O erythrocytes, followed by repeat ABO typing with either the absorbed plasma or standard reverse grouping erythrocytes without M antigen. Our subsequent steps included a cross-matching test with manual tube testing, the Polybrene method, and antiglobulin test, monitoring of the hemoglobin value after transfusion.</p><p><strong>Results: </strong>A total of 11 patients had anti-M antibodies detected in their serum. Among these 11 patients, 9 had blood type discrepancies identified during blood typing, and the other 2 cases were identified as type O. We saw 4 cases of IgM-type antibodies, 1 case of IgG-type antibodies, and 7 cases of IgM-type and IgG-type antibodies. The forward and reverse typing of 9 samples showed consistent results after serum reverse typing was rechecked by O cell absorption. Cross-matching was compatible with blood donors without M antigen, and 7 of these patients were treated with transfusion, all of whom had elevated hemoglobin levels after transfusion, with no adverse transfusion reactions.</p><p><strong>Discussion: </strong>In specimens with irregular anti-M antibodies, serum absorption can be used to eliminate the interference caused by the irregular antibodies and obtain the correct experimental results. Moreover, the addition of type O red blood cells in the experiment can improve the detection rate of partial antibodies. For specific patients, such as individuals undergoing surgery, regardless of whether the antibody reacts at 37 °C, we recommend choosing M antigen-negative donors for blood transfusion to ensure the safety of blood transfusion for patients in clinical settings.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of CD73, PD-1, circHIPK3, and circNRIP1 expression in the peripheral blood of patients with colorectal cancer.","authors":"Zahra Shafaghat, Ali Arash Anoushirvani, Mehdi Nikkhah, Fatemeh Rahbari Solute, Mahdi Alem Rajabi, Iraj Alipourfard, Elaheh Safari","doi":"10.1093/labmed/lmaf015","DOIUrl":"https://doi.org/10.1093/labmed/lmaf015","url":null,"abstract":"<p><strong>Introduction: </strong>Colorectal cancer (CRC) is known to have an association with circular RNAs (circRNAs) and immune checkpoint factors. This study sought to examine the expression levels of hsa_circ_0000284 and hsa_circ_0004771 molecules and the programmed cell death 1 protein (PD-1) and ecto-5'-nucleotidase (CD73) immune checkpoints in the peripheral blood of patients with CRC as well as the ratios of circular to linear forms of homeodomain-interacting protein kinase 3 (HIPK3) and nuclear receptor interacting protein 1 (NRIP1).</p><p><strong>Methods: </strong>Real-time polymerase chain reaction (PCR) and flow cytometry were used to assess quantitatively the expression level of circRNAs, CD73, and PD-1 in blood samples from patients with CRC and healthy control individuals. The expression of CD73 and PD-1 molecules was analyzed using FlowJo software, and the expression levels of circRNAs, CD73, and PD-1 were calculated with real-time PCR analysis.</p><p><strong>Results: </strong>Real-time PCR analysis revealed a statistically significant increase in the linear form of hsa_circ_0004771 (linNRIP1) and PD-1 gene expression in patients' blood compared with control individuals. In addition, the circHIPK3:linHIPK3 and circNRIP1:linNRIP1 ratios are statistically significantly higher in patients than in healthy control individuals. The flow cytometry assessment indicated a statistically significant increase in PD-1 on the surface of lymphocytes and monocytes and an increase in CD73 on the granulocytes of patients compared with the healthy control individual.</p><p><strong>Discussion: </strong>Based on these findings, hsa_circ_0000284, hsa_circ_0004771, PD-1, and CD73 were statistically significantly increased in our cancer group. If further research were done, these blood markers could potential be biomarkers for CRC progression.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-parietal cell antibodies in patients with Graves disease.","authors":"Sarra Melayah, Roua Talbi, Mariem Ghozzi, Ibtissem Ghedira","doi":"10.1093/labmed/lmaf019","DOIUrl":"https://doi.org/10.1093/labmed/lmaf019","url":null,"abstract":"<p><strong>Introduction: </strong>Since the 1960s, the term thyrogastric syndrome has defined the association of autoimmune gastritis with autoimmune thyroid disease (ATD). Graves disease, one of the most common autoimmune thyroid diseases, has been associated with autoimmune gastritis. The aim of this study was to evaluate the frequency of anti-parietal cell antibodies (APCAs) in a cohort of patients with Graves disease.</p><p><strong>Methods: </strong>Eighty-three patients with Graves disease and 83 healthy adult blood donors were enrolled. All patients were positive for thyroid-stimulating hormone receptor antibodies (TRAbs). The APCAs were detected using an indirect immunofluorescence technique.</p><p><strong>Results: </strong>The frequency of APCAs was significantly higher in the patients group than in the control group (12% vs 0% [95% UC, 5%-19%]; P = .001). The frequency of APCAs was slightly higher in female patients with Graves disease (12.7%) than in male patients (10%), but the difference was not statistically significant. The mean (SD) titer of TRAbs in APCA-positive patients was not statistically higher than in APCA-negative patients (21.4 [17] IU/L vs 16.8 [14.9] UI/L; P = .37). No correlation was found between titers of APCA and titers of TRAbs (r = -0.49, P = .148).</p><p><strong>Discussion: </strong>Although APCAs are frequent in patients with Graves disease, their significance has to be determined.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}