Clinical biochemistry最新文献

{"title":"Pregnancy or PEG? Polyethylene glycol causes false positive pregnancy test","authors":"Timothy Ming Him Yeung , Elaine Yi Ling Wong , Melody Yee Man Wong , Ching Wan Lam","doi":"10.1016/j.clinbiochem.2025.111019","DOIUrl":"10.1016/j.clinbiochem.2025.111019","url":null,"abstract":"","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111019"},"PeriodicalIF":2.1,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Re-evaluating ferritin thresholds to diagnose iron deficiency","authors":"Katie M. Troike,&nbsp;Adam J. McShane","doi":"10.1016/j.clinbiochem.2025.111020","DOIUrl":"10.1016/j.clinbiochem.2025.111020","url":null,"abstract":"<div><h3>Background</h3><div>Iron deficiency (ID) and iron deficiency anemia (IDA) are prevalent and treatable conditions which disproportionately affect women. Serum ferritin is the most sensitive biomarker for ID and IDA, but its utility in clinical decision making is limited by sex-specific reference intervals (RIs) that are frequently lower than evidence-based recommendations. The inclusion of asymptomatic, iron-depleted individuals in RI studies likely accounts for inappropriate ferritin thresholds, and a lower cutoff of 30 µg/L has been proposed by an expert consensus panel to improve sensitivity.<!--> <!-->In this study, we assessed ferritin RIs for diagnosing ID and IDA in our patient population.</div></div><div><h3>Methods</h3><div>Patient data, including age, sex assigned at birth, hemoglobin, and iron markers, were extracted from the laboratory information system (LIS). Patients were stratified into iron replete (IR), ID, or IDA groups based on measurements for iron, transferrin saturation, and hemoglobin. Ferritin values from the IR group were used to generate new reference ranges and receiver operator characteristic (ROC) curves were plotted to define optimal ferritin cutoffs for diagnosis of ID and IDA.</div></div><div><h3>Results</h3><div>Ferritin RIs generated from the IR group had lower limit cutoffs of 16.9 µg/L and 30 µg/L for females and males, respectively. Youden Index analysis of ROC curves identified optimal cutoffs of 45 µg/L and 70 µg/L for ID in females and males, respectively, improving diagnostic sensitivity by 44 % in the female group.</div></div><div><h3>Conclusions</h3><div>These findings are consistent with recommendations for increasing ferritin cutoffs and demonstrate the need for clinical laboratories to re-examine ferritin RIs, particularly for ID diagnosis in the female patient population.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111020"},"PeriodicalIF":2.1,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishing indicators to monitor the utilization of POC glucose meters in glycemic control","authors":"Yun Huang ,&nbsp;Brendan Ly","doi":"10.1016/j.clinbiochem.2025.111021","DOIUrl":"10.1016/j.clinbiochem.2025.111021","url":null,"abstract":"<div><h3>Objectives</h3><div>The use of point-of-care (POC) glucose meters and effectiveness of glycemic control should be monitored as part of quality assurance practices. This study is the first to establish indicators to evaluate the utilization of glucose meters in our academic hospital.</div></div><div><h3>Methods</h3><div>Patient results from glucose meters located in emergency department (ED), intensive care units (ICUs), general wards, and neonatal units were extracted from the data management system for the months of October to December from 2021 to 2023. Six indicators were developed and compared across clinical units, including: glucose test number per meter, daily frequency of patient glucose testing 1–4 times (%), ratio of POC to core lab glucose testing, and percentages of patient glucose results within target ranges, below critical level 2.5 mmol/L, or above 25.0 mmol/L.</div></div><div><h3>Results</h3><div>The six indicators varied greatly between clinical units due to the differences in patient populations, clinical scenarios, and clinical guidelines. About 90 % of patients in general wards, ED and neonatal units were tested glucose 1–4 times/day, while 27.1 % patients in ICUs were tested glucose 5–10 times/day or more. The average POC/core lab glucose testing ratio in neonatal units, general wards, ICUs, and ED was 17.6, 14.9, 2.2, and 0.3, respectively. Overall, 69.6 % of patient glucose results in all clinical units fell within the target ranges. Percentages of patient glucose results below 2.5 mmol/L or above 25.0 mmol/L were both under 0.6 % across clinical units.</div></div><div><h3>Conclusions</h3><div>In this study, the indicators were able to assess the use of POC glucose meters and the effectiveness of glycemic control and to identify opportunities for quality improvement. The approach can be readily applied in other hospitals.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111021"},"PeriodicalIF":2.1,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calculated small-dense and large-buoyant low-density lipoprotein-cholesterol and their ratio in predicting coronary artery disease risk: A cohort study in Thailand","authors":"Thanyatorn Chantivas ,&nbsp;Prin Vathesatogkit ,&nbsp;Anchalee Chittamma ,&nbsp;Nisakron Thongmung ,&nbsp;Martin H Kroll ,&nbsp;Pornpen Srisawasdi","doi":"10.1016/j.clinbiochem.2025.111018","DOIUrl":"10.1016/j.clinbiochem.2025.111018","url":null,"abstract":"<div><h3>Objectives</h3><div>Calculated, small dense low-density lipoprotein cholesterol (CsdLDL-C), derived using the Sampson equation, has been proposed as a screening tool for atherosclerotic cardiovascular disease risk. The current study investigated the utility of CsdLDL-C and calculated large buoyant low-density lipoprotein cholesterol (ClbLDL-C) for coronary artery disease (CAD) risk assessment in a Thai population.</div></div><div><h3>Methods</h3><div>This study included 6448 participants without prior CAD from the Electricity Generating Authority of Thailand (EGAT) prospective cohort (2007–2009). CsdLDL-C and ClbLDL-C were estimated from standard lipid panel measurements. Associations with CAD risk were evaluated using Kaplan–Meier survival analysis and Cox proportional hazards models.</div></div><div><h3>Results</h3><div>Over a mean follow-up period of 10.24 ± 1.01 years, 262 (4.06 %) participants experienced CAD events. At the optimal cutoffs, high CsdLDL-C [&gt;1.08 mmol/L (41.85 mg/dL)] was significantly associated with incident CAD events (HR = 1.57; 95 % CI = 1.22–2.02), whereas high ClbLDL-C [&gt;2.52 mmol/L (97.59 mg/dL)] was inversely associated with incident CAD events (HR = 0.72; 95 % CI = 0.56-0.92). The CsdLDL-C/ClbLDL-C ratio exhibited the strongest association (HR = 2.02; 95 % CI = 1.58–2.60) among all lipid parameters. When individually added to the pooled cohort risk equation, CsdLDL-C and the CsdLDL-C/ClbLDL-C ratio remained significant predictors of new-onset CAD. They also demonstrated good discriminatory power (<em>P</em> &lt; 0.004).</div></div><div><h3>Conclusion</h3><div>CsdLDL-C and ClbLDL-C, derived using the Sampson equation, were significantly associated with CAD risk in the opposite direction. Their ratio had greater predictive effectiveness. Incorporating CsdLDL-C and the CsdLDL-C/ClbLDL-C ratio into cardiovascular risk assessment models may improve early identification of at-risk individuals.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111018"},"PeriodicalIF":2.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145155145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modified LDL variants in atherosclerosis: molecular pathways, diagnostic potential, and therapeutic perspectives","authors":"Siarhei A. Dabravolski ,&nbsp;Alexander L. Golovyuk ,&nbsp;Olga N. Maltseva ,&nbsp;Aleksandra S. Utkina ,&nbsp;Alikhan Z. Asoyan ,&nbsp;Alexander N. Orekhov","doi":"10.1016/j.clinbiochem.2025.111016","DOIUrl":"10.1016/j.clinbiochem.2025.111016","url":null,"abstract":"<div><div>Modified low-density lipoproteins (LDL) play a pivotal role in the pathogenesis of atherosclerosis, contributing to plaque formation and vascular inflammation. This review explores how a diverse array of forms of modified LDL, including carbamylated LDL, nitrated LDL, and desialylated LDL, along with various enzymatic modifications, contribute to disease progression. We discuss how these alterations promote the formation of a heterogeneous, highly atherogenic pool of particles known as electronegative LDL (LDL(−)). Mechanistic insights highlight pathways involving upregulated scavenger receptors, foam cell formation, and chronic inflammatory responses. The diagnostic and prognostic implications of LDL(−), including its association with autoimmune conditions like rheumatoid arthritis and chronic conditions such as type 2 diabetes, underscore its potential as a biomarker for cardiovascular risk. Emerging therapies targeting LDL(−), such as nanoformulations of single-chain fragment variable antibodies, demonstrate promising efficacy in reducing lesion size and inflammation without adverse systemic effects. Despite these advances, a critical barrier to clinical translation is the lack of standardised, high-throughput assays suitable for routine laboratory use. Future research must therefore prioritise the development and validation of robust clinical assays to quantify these atherogenic particles, a crucial step for establishing their role in advanced risk stratification and for guiding novel therapeutic strategies..</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111016"},"PeriodicalIF":2.1,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reliable LC-MS/MS method development and validation for the determination of methylmalonic acid, methylcitric acid, malonic acid, ethylmalonic acid, and total homocysteine in dried blood spots","authors":"Chunyan Zhang ,&nbsp;Nan Bai ,&nbsp;Yanling Yang ,&nbsp;Yuxuan Cheng ,&nbsp;Xiyu He ,&nbsp;Meng Wang ,&nbsp;Honghui Zhou ,&nbsp;Yaping Tian","doi":"10.1016/j.clinbiochem.2025.111013","DOIUrl":"10.1016/j.clinbiochem.2025.111013","url":null,"abstract":"<div><h3>Objectives</h3><div>Metabolic disorders in newborns can cause significant morbidity and mortality if not diagnosed and managed early. In this study, we developed and validated a reliable LC-MS/MS method to simultaneously quantify methylmalonic acid, methylcitric acid, malonic acid, ethylmalonic acid, and total homocysteine associated with metabolic disorders.</div></div><div><h3>Design and methods</h3><div>According to Clinical Laboratory Standards Institute (CLSI) guidelines, various analytical performances (i.e., precision, linearity, accuracy and reference intervals) were rigorously evaluated. Meanwhile, sample preparation, chromatographic separation and mass spectrometric detection and incorporating stable isotope-labeled internal standards were optimized. Furthermore, calibrators and quality controls were developed to ensure standardization and traceability.</div></div><div><h3>Results</h3><div>The coefficient of variations for precision were less than 10.0 %. Meanwhile, the results showed high accuracy (recoveries: 94.57 %–109.60 %) and robust linearity (R² &gt; 0.9935) over clinically relevant ranges. The limits of detection and limits of quantification for all analytes were established, enabling sensitive detection of pathological elevations. Reference intervals for pediatric populations (ages 0–1 month and 2 months to 18 years) were determined, providing essential baselines for clinical interpretation.</div></div><div><h3>Conclusions</h3><div>The newly developed method demonstrated good analytical performance and offers a standardized, high-throughput solution for clinical laboratories to improve early diagnosis and personalized management of metabolic diseases.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111013"},"PeriodicalIF":2.1,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145057325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of structural and functional characteristics of HDL and LDL in lung cancer patients in order to elucidate mechanisms of cholesterol metabolic pathways disorders","authors":"Milica Belic ,&nbsp;Dragana Jovanovic ,&nbsp;Milica Miljkovic Trailovic ,&nbsp;Miron Sopic ,&nbsp;Marina Roksandic-Milenkovic ,&nbsp;Vesna Ceriman Krstic ,&nbsp;Nemanja Dimic ,&nbsp;Jelena Vekic ,&nbsp;Aleksandra Zeljkovic ,&nbsp;Jelena Kotur-Stevuljevic","doi":"10.1016/j.clinbiochem.2025.111012","DOIUrl":"10.1016/j.clinbiochem.2025.111012","url":null,"abstract":"<div><h3>Introduction</h3><div>Cholesterol metabolism dysregulation is recognized as one of the hallmarks of the cancer with highest mortality rate and the second most common malignancy – lung cancer (LC). LDL and HDL particles, the latter being carriers of the antioxidant paraoxonase-1 (PON1), were already proven to be altered in cancer patients. We have tried to investigate in more depth the cholesterol metabolism perturbances in LC, by analzying content of each of the LDL and HDL subclass and (anti)oxidative activity of each of the HDL subclass separately.</div></div><div><h3>Materials and Methods</h3><div>LDL and HDL subclasses from blood samples of 89 LC patients and 84 healthy subjects were separated and HDL subclasses PON1 activity assessed using Rainwater method and Gugliucci’s zymogram method, respectively.</div></div><div><h3>Results</h3><div>LC patients had higher relative proportion of HDL 2 particles, lower proportion of HDL 3 particles, and significantly lower activity of PON1 compared to control group (CG). Relative proportion of PON1 activity was higher on HDL 2b fraction and lower on all HDL 3 fractions of LC patients compared to CG. Relative proportions of LDL I and LDL II particles were increased, while proportions of LDL IV and small dense LDL particles were decreased in LC patients. Relative proportions of HDL and LDL subfractions and PON1 activities on HDL subfractions were found to be dependent on LC type and size, number of comorbidities and sites of progression, and overall response to therapy.</div></div><div><h3>Conclusion</h3><div>PON1 activity and lipoprotein subfractions distribution seem to be indicators of possible metabolic pathways (disorders) in LC.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111012"},"PeriodicalIF":2.1,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145057324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urine proteome uncovers common mechanisms between mucopolysaccharidosis types I and II","authors":"Xiaozhou Yuan ,&nbsp;Donghao Jia ,&nbsp;Gefan Wan ,&nbsp;Chengbin Wang ,&nbsp;Kefu Liu ,&nbsp;Yan Meng ,&nbsp;Jinyan Duan","doi":"10.1016/j.clinbiochem.2025.111011","DOIUrl":"10.1016/j.clinbiochem.2025.111011","url":null,"abstract":"<div><h3>Background and aims</h3><div>Mucopolysaccharidosis (MPS) types I and II are two types of rare lysosomal storage diseases, which lead to the accumulation of glycosaminoglycans due to the lack of the enzyme alpha-L-iduronidase and iduronate 2-sulfatase respectively. There are some similar pathogenic mechanisms and clinical phenotypes but also some specific minute manifestations between these two subtypes.</div></div><div><h3>Materials and methods</h3><div>We used tandem mass tag mass spectrometry to analyze the differential protein profiles in the urine of MPS I and MPS II patients, and then used parallel reaction monitoring (PRM) to verify our results. We detected the differentially expressed proteins (DEPs) of MPS I and MPS II compared with the control group separately.</div></div><div><h3>Results</h3><div>We focused on 227 DEPs which showed consistent changes in the urine of both MPS I and MPS II. PRM analysis verified that up-regulated hexosaminidase B and down-regulated hemoglobin alpha-1 showed significant difference in the urine of both subtypes. In addition, we found 391 DEPs by comparative analysis of MPS I and MPS II proteomes and found that DHRS2 contributed to the difference between the two subtypes by PRM verification.</div></div><div><h3>Conclusion</h3><div>We found that the urine of the two subtypes showed up-regulated HEXB and down regulated HBA1, while DHRS2 was significantly different in the urine of the two subtypes.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111011"},"PeriodicalIF":2.1,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145045756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotyping and genotyping for the dihydropyrimidine dehydrogenase test in Italy: a precise diagnostic strategy to detect rare variants and improve drug administration","authors":"Maria Lucia Tommolini ,&nbsp;Mirco Zucchelli ,&nbsp;Alberto Frisco ,&nbsp;Rossella Ferrante ,&nbsp;Beatrice Dufrusine ,&nbsp;Claudia Palmarini ,&nbsp;Luca Natale ,&nbsp;Patrizia Ballerini ,&nbsp;Liborio Stuppia ,&nbsp;Luca Federici ,&nbsp;Damiana Pieragostino ,&nbsp;Ilaria Cicalini","doi":"10.1016/j.clinbiochem.2025.111010","DOIUrl":"10.1016/j.clinbiochem.2025.111010","url":null,"abstract":"<div><h3>Introduction</h3><div>Dihydropyrimidine dehydrogenase (DPD) is the enzyme implicated in the catabolism of the fluoropyrimidines (FP), a class of chemotherapeutics used to treat many cancers. The <em>DPYD</em> gene is known to have a huge number of variants potentially associated with DPD deficiency. Therefore, phenotypic and genotypic characterization of DPD is fundamental for cancer patients before undergoing treatment with FP. The AIOM (Italian Association of Medical Oncology) requires genetic analysis, with the purpose to identify a panel of 5 single nucleotide polymorphisms associated with 5-fluorouracil (5-FU)-induced toxicity, while the biochemical test, which measures uracil levels to predict the residual activity of DPD, is only recommended and not mandatory.</div></div><div><h3>Methods</h3><div>Single nucleotide polymorphisms were analyzed by real-time polymerase chain reaction (PCR) from peripheral blood. Uracil and dihydrouracil were quantified using an ultra-performance liquid chromatography/tandem mass spectrometry system in plasma obtained from patients before 5-FU treatment. Sanger sequencing was performed for the <em>DPYD</em> gene.</div></div><div><h3>Results</h3><div>Here, we describe the case of a 70-year-old Caucasian male patient with pancreatic cancer for whom real-time PCR highlighted a heterozygous pathogenic variant c.1905 + 1G &gt; A associated with a 50 % reduction of DPD enzymatic activity. This finding was not confirmed by the biochemical test which revealed a complete absence of DPD activity. By performing Sanger sequencing, we highlighted the concomitant presence of a likely pathogenic variant c.2622 + 1G &gt; A, not compatible with the administration of 5-FU.</div></div><div><h3>Conclusion</h3><div>Thus far, guidelines provide a limited panel for the identification of pathogenic or likely pathogenic variants of the <em>DPYD</em> gene, therefore we encourage the mandatory use of biochemical tests as a precise diagnostic strategy to detect rare variants and improve drug administration.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111010"},"PeriodicalIF":2.1,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical implementation and outcome evaluation of dihydropyrimidine dehydrogenase (DPYD) pharmacogenomic testing for fluoropyrimidine dosing in a Canadian Provincial Healthcare center","authors":"Fang Wu ,&nbsp;Song Lu ,&nbsp;Dan Zhang ,&nbsp;Nelly Abdelfatah ,&nbsp;Vijayananda Kundapur ,&nbsp;Fergall Magee ,&nbsp;Yanwei Xi","doi":"10.1016/j.clinbiochem.2025.111008","DOIUrl":"10.1016/j.clinbiochem.2025.111008","url":null,"abstract":"<div><h3>Background</h3><div>5-Fluorouracil (5-FU) and its pro-drug, capecitabine, are widely used to treat solid tumors. Patients with dihydropyrimidine dehydrogenase (<em>DPYD</em>) deficiency are at increased risk for severe treatment-related toxicity. This study reported the implementation of <em>DPYD</em> genotyping in clinical practice and assessed the impact of genotype-guided dosing on clinical outcomes.</div></div><div><h3>Methods</h3><div>An in-house pharmacogenomic testing using the Elucigene <em>DPYD</em> genotyping kit (Yourgene Health, UK) was established to detect the four most common clinically actionable <em>DPYD</em> alleles, including <em>*2A, *13, HapB3</em> and c.2846A&gt;T (rs67376798). Six months post-implementation, a retrospective chart review assessed genotype results, chemotherapy regimens, dose modifications, adverse events related to 5-FU or capecitabine, and demographics. Data were de-identified for analysis.</div></div><div><h3>Results</h3><div>Analytical validation of the <em>DPYD</em> assay showed 100 % sensitivity, specificity, accuracy, reproducibility, and repeatability. The genotyping workflow was successfully integrated into clinical practice, with a rapid turnaround time to meet oncology treatment planning. From July to December 2024, 299 patients underwent <em>DPYD</em> testing; variants were identified in 22 patients, including 20 patients (6.7 %) with clinically significant variants conferring a reduced DPD function and 2 patients with a variant (c.483 + 18G&gt;A; rs56276561) that retains normal DPD function. Among those variants, <em>HapB3</em> (n = 18) was the most frequent one, characterized by c.1129-5923C&gt;G and c.1236G&gt;A <em>(</em>rs75017182, rs56038477) co-occurring with c.483 + 18G&gt;A (rs56276561). Of 233 patients receiving 5-FU-based chemotherapy, 13 were variant carriers. Genotype-guided dosing allowed early dose optimization, and all carriers completed at least three treatment cycles, with one severe adverse event attributed to oxaliplatin rather than 5-FU.</div></div><div><h3>Conclusions</h3><div>This study reported the integration of <em>DPYD</em> pharmacogenomic testing into oncology care and evaluated the post-implementation clinical outcomes, highlighting the critical role of pharmacogenomic testing in optimizing cancer treatment and improving patient safety.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111008"},"PeriodicalIF":2.1,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145004771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}