Pub Date : 2024-06-17DOI: 10.1515/labmed-2024-0029
A. Gamisch, Hans Georg Mustafa, A. C. Haushofer, M. Mustafa-Korninger
Abstract Liquid biopsy (LB) represents an advanced, minimally invasive approach that elevates the precision of oncological decision-making by identifying tumor DNA in bodily fluids. However, despite numerous endorsements from international specialty societies and working groups, implementation of LB into routine care is lagging behind due to conceptual and methodological uncertainties. This concise mini review aims to help catalyzing the translation of LB into routine care by exploring key considerations for incorporating circulating tumor DNA (ctDNA) analysis into clinical practice. Addressing eight pertinent questions from the perspective of a molecular oncology laboratory, this review synthesizes insights from the European Society for Medical Oncology (ESMO) recommendations and incorporates the latest findings from relevant literature, offering a comprehensive guide to the implementation of ctDNA assays.
摘要 液体活检（LB）是一种先进的微创方法，它通过鉴定体液中的肿瘤 DNA 来提高肿瘤决策的准确性。然而，尽管国际专科协会和工作组多次认可液体活检，但由于概念和方法上的不确定性，液体活检在常规治疗中的应用仍然滞后。这篇简明扼要的微型综述旨在通过探讨将循环肿瘤 DNA（ctDNA）分析纳入临床实践的关键注意事项，帮助将 LB 转化为常规治疗。本综述从分子肿瘤学实验室的角度探讨了八个相关问题，综合了欧洲肿瘤内科学会（ESMO）的建议，并纳入了相关文献的最新研究成果，为ctDNA检测的实施提供了全面的指导。
{"title":"Implementing the ESMO recommendations for the use of circulating tumor DNA (ctDNA) assays in routine clinical application/diagnostics","authors":"A. Gamisch, Hans Georg Mustafa, A. C. Haushofer, M. Mustafa-Korninger","doi":"10.1515/labmed-2024-0029","DOIUrl":"https://doi.org/10.1515/labmed-2024-0029","url":null,"abstract":"Abstract Liquid biopsy (LB) represents an advanced, minimally invasive approach that elevates the precision of oncological decision-making by identifying tumor DNA in bodily fluids. However, despite numerous endorsements from international specialty societies and working groups, implementation of LB into routine care is lagging behind due to conceptual and methodological uncertainties. This concise mini review aims to help catalyzing the translation of LB into routine care by exploring key considerations for incorporating circulating tumor DNA (ctDNA) analysis into clinical practice. Addressing eight pertinent questions from the perspective of a molecular oncology laboratory, this review synthesizes insights from the European Society for Medical Oncology (ESMO) recommendations and incorporates the latest findings from relevant literature, offering a comprehensive guide to the implementation of ctDNA assays.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141335244","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}
Pub Date : 2024-06-12DOI: 10.1515/labmed-2023-0137
Thanawat Suwatthanarak, O. Acharayothin, Kullanist Thanormjit, A. Chaiboonchoe, Tharathorn Suwatthanarak, A. Niyomchan, Manop Pithukpakorn, P. Tanjak, V. Chinswangwatanakul
Abstract Objectives Biobanks play an important role in advancing cancer research, yet concerns persist regarding the molecular integrity of long-term stored samples. This study assessed fresh frozen (FF) tissues and formalin-fixed paraffin-embedded (FFPE) tissues from the Siriraj Hospital colorectal cancer (CRC) biobank collected during two distinct periods (2011–2012 and 2020–2021). Methods In 2022, FF and FFPE primary cancer tissues from 75 CRC patients were evaluated. RNA sequencing (RNA-Seq) analyzed comprehensive gene expression profiles in FF tissues preserved at −80 °C, while nCounter profiling elucidated cancer-specific RNA transcripts in FFPE tissues stored at ambient temperature. Comparative analyses were conducted between specimens from 2011 to 2012 and 2020–2021. Results The FF tissues stored for approximately 10.5 years were well-suited for RNA-Seq compared to the intact tissues preserved for 1.5 years. Despite consistencies in RNA quantity, RNA integrity, amount of sequencing reads, and CRC gene signature, gene enrichment analysis revealed the decreased ribosome biogenesis, spliceosome and antifolate resistance pathways in the 2011–2012 group. Moreover, the FFPE tissues also showed no alteration in RNA quantity between the two periods, and the nCounter profiling demonstrated comparable CRC-specific gene counts in spite of the significant reduction of raw counts in the 2011–2012 group. Conclusions We report that FF tissues from CRC patients, stored for 10 years, are viable for whole transcriptome RNA-Seq, despite altered pathways such as ribosome biogenesis, spliceosome, and antifolate resistance. Moreover, 10-year-stored FFPE CRC tissues remain suitable for specific RNA profiling using the nCounter pan-cancer panel, despite a significant reduction in raw counts. These findings underscore the enduring contribution of biobanks to molecular research, highlighting their value a decade post-collection.
{"title":"Assessment of long-term stored specimens in the Siriraj Hospital colorectal cancer biobank for RNA sequencing and profiling","authors":"Thanawat Suwatthanarak, O. Acharayothin, Kullanist Thanormjit, A. Chaiboonchoe, Tharathorn Suwatthanarak, A. Niyomchan, Manop Pithukpakorn, P. Tanjak, V. Chinswangwatanakul","doi":"10.1515/labmed-2023-0137","DOIUrl":"https://doi.org/10.1515/labmed-2023-0137","url":null,"abstract":"Abstract Objectives Biobanks play an important role in advancing cancer research, yet concerns persist regarding the molecular integrity of long-term stored samples. This study assessed fresh frozen (FF) tissues and formalin-fixed paraffin-embedded (FFPE) tissues from the Siriraj Hospital colorectal cancer (CRC) biobank collected during two distinct periods (2011–2012 and 2020–2021). Methods In 2022, FF and FFPE primary cancer tissues from 75 CRC patients were evaluated. RNA sequencing (RNA-Seq) analyzed comprehensive gene expression profiles in FF tissues preserved at −80 °C, while nCounter profiling elucidated cancer-specific RNA transcripts in FFPE tissues stored at ambient temperature. Comparative analyses were conducted between specimens from 2011 to 2012 and 2020–2021. Results The FF tissues stored for approximately 10.5 years were well-suited for RNA-Seq compared to the intact tissues preserved for 1.5 years. Despite consistencies in RNA quantity, RNA integrity, amount of sequencing reads, and CRC gene signature, gene enrichment analysis revealed the decreased ribosome biogenesis, spliceosome and antifolate resistance pathways in the 2011–2012 group. Moreover, the FFPE tissues also showed no alteration in RNA quantity between the two periods, and the nCounter profiling demonstrated comparable CRC-specific gene counts in spite of the significant reduction of raw counts in the 2011–2012 group. Conclusions We report that FF tissues from CRC patients, stored for 10 years, are viable for whole transcriptome RNA-Seq, despite altered pathways such as ribosome biogenesis, spliceosome, and antifolate resistance. Moreover, 10-year-stored FFPE CRC tissues remain suitable for specific RNA profiling using the nCounter pan-cancer panel, despite a significant reduction in raw counts. These findings underscore the enduring contribution of biobanks to molecular research, highlighting their value a decade post-collection.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141353963","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}
Pub Date : 2024-06-11DOI: 10.1515/labmed-2024-0011
Kimberly Ingalls, Tish A. O’Reilly, Beverly Twohig, David M. Conrad
Abstract Objectives Proficiency programs allow hospital laboratories to evaluate and improve diagnostic performance. A cloud-based proficiency program was launched in 2017 to standardize peripheral blood morphology assessments in hospital laboratories across the province of Nova Scotia. Methods The CellaVision® Proficiency Software was used to evaluate peripheral blood morphology assessments. A different blood film featuring a specific red or white cell finding or normal morphology was evaluated each month. Each hospital’s proficiency slide completion and pass rates were monitored, which helped inform remediation efforts. Results In 2017, 213 medical laboratory technologists from 14 hospital laboratories enrolled in the proficiency program. The average completion rate for monthly proficiency assessments between 2017 and 2022 was 90 %. During that time, the pass rate increased from 59 to 95 % and 73 to 89 % for red and white blood cell assessments, respectively. By 2022, four hospital laboratories and 83 medical laboratory technologists stopped performing peripheral blood assessments. Conclusions The CellaVision® Proficiency Software facilitated a centralized peripheral blood morphology proficiency assessment program for geographically distributed hospital sites. The use of this software increased the quality of peripheral blood morphology assessments in Nova Scotia by simplifying the evaluation of and education on peripheral blood morphology skills.
{"title":"Development of a peripheral blood morphology proficiency assessment program using the CellaVision® Proficiency Software","authors":"Kimberly Ingalls, Tish A. O’Reilly, Beverly Twohig, David M. Conrad","doi":"10.1515/labmed-2024-0011","DOIUrl":"https://doi.org/10.1515/labmed-2024-0011","url":null,"abstract":"Abstract Objectives Proficiency programs allow hospital laboratories to evaluate and improve diagnostic performance. A cloud-based proficiency program was launched in 2017 to standardize peripheral blood morphology assessments in hospital laboratories across the province of Nova Scotia. Methods The CellaVision® Proficiency Software was used to evaluate peripheral blood morphology assessments. A different blood film featuring a specific red or white cell finding or normal morphology was evaluated each month. Each hospital’s proficiency slide completion and pass rates were monitored, which helped inform remediation efforts. Results In 2017, 213 medical laboratory technologists from 14 hospital laboratories enrolled in the proficiency program. The average completion rate for monthly proficiency assessments between 2017 and 2022 was 90 %. During that time, the pass rate increased from 59 to 95 % and 73 to 89 % for red and white blood cell assessments, respectively. By 2022, four hospital laboratories and 83 medical laboratory technologists stopped performing peripheral blood assessments. Conclusions The CellaVision® Proficiency Software facilitated a centralized peripheral blood morphology proficiency assessment program for geographically distributed hospital sites. The use of this software increased the quality of peripheral blood morphology assessments in Nova Scotia by simplifying the evaluation of and education on peripheral blood morphology skills.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141359561","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}
Pub Date : 2024-06-11DOI: 10.1515/labmed-2024-0048
Yanlong Huang, Xin Luo, Biting Li, Liwei Zeng, Ruoting Ye, Chengyi Liu, Cunwei Ji, Zhenhui Chen, Mingyong Luo
Abstract Objectives To explore and identify an optimal serum ferritin (SF) threshold level in diagnosing hemophagocytic lymphohistiocytosis (HLH) in Chinese children. Methods We conducted a retrospective study of 74 children with HLH admitted to Guangdong Women and Children Hospital between January 2015 and May 2021. Children in-hospital not diagnosed with HLH between January 2021 and May 2021 with a measurement of SF were enrolled as the non-HLH group. Patient charts were reviewed for SF levels upon admission and during hospitalization. A receiver operating characteristic (ROC) curve was utilized to determine the optimal cutoff value of SF for diagnosing childhood HLH. Results This study included a total of 74 children with HLH and 302 children with non-HLH diseases. The difference in SF values between the HLH and non-HLH groups was statistically significant (8,975 μg/L vs. 165.5 μg/L, p<0.001). An optimal SF cutoff value of 1,830 μg/L provided a sensitivity of 88 % and specificity of 79 % in confirming childhood HLH. The area under the curve (AUC) is 0.91 (95 % confidence interval 0.88–0.94, p<0.0001). Conclusions A serum ferritin level elevated above 1,830 μg/L might improve the specificity for HLH diagnosis in Chinese children.
{"title":"Identification of a high threshold value of serum ferritin in the diagnosis of hemophagocytic lymphohistiocytosis in hospitalized children in China","authors":"Yanlong Huang, Xin Luo, Biting Li, Liwei Zeng, Ruoting Ye, Chengyi Liu, Cunwei Ji, Zhenhui Chen, Mingyong Luo","doi":"10.1515/labmed-2024-0048","DOIUrl":"https://doi.org/10.1515/labmed-2024-0048","url":null,"abstract":"Abstract Objectives To explore and identify an optimal serum ferritin (SF) threshold level in diagnosing hemophagocytic lymphohistiocytosis (HLH) in Chinese children. Methods We conducted a retrospective study of 74 children with HLH admitted to Guangdong Women and Children Hospital between January 2015 and May 2021. Children in-hospital not diagnosed with HLH between January 2021 and May 2021 with a measurement of SF were enrolled as the non-HLH group. Patient charts were reviewed for SF levels upon admission and during hospitalization. A receiver operating characteristic (ROC) curve was utilized to determine the optimal cutoff value of SF for diagnosing childhood HLH. Results This study included a total of 74 children with HLH and 302 children with non-HLH diseases. The difference in SF values between the HLH and non-HLH groups was statistically significant (8,975 μg/L vs. 165.5 μg/L, p<0.001). An optimal SF cutoff value of 1,830 μg/L provided a sensitivity of 88 % and specificity of 79 % in confirming childhood HLH. The area under the curve (AUC) is 0.91 (95 % confidence interval 0.88–0.94, p<0.0001). Conclusions A serum ferritin level elevated above 1,830 μg/L might improve the specificity for HLH diagnosis in Chinese children.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141356135","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}
Abstract Objectives Altered serum Netrin-1 levels have been widely reported in cancer and other clinical diseases and they are often measured by commercial ELISA kits. However, we found the questionable results using these kits and therefore performed this simple study to evaluate their accuracy in detection of serum Netrin-1. Methods Four commonly used commercial kits were collected. The kit standards were serially diluted or spiked into serum samples. The cells with confirmed expression of Netrin-1 and their culture medium, as well as the Netrin-1 controls of each kit were used for the kits to detect. The cell lysate samples and the kit controls were also blotted on a nitrocellulose membrane for detection antibodies of each kit to probe. Results Detection of the Netrin-1 standards in serum by each kit were all affected. Only one kit was able to detect Netrin-1 in the cell lysate or medium. No ELISA kits could detect all Netrin-1 controls of the four kits. None of the detection antibodies correctly probed Netrin-1 in the dot blot. Conclusions The accuracy of these four Netrin-1 ELISA kits is under question. Reported serum Netrin-1 levels based on measurements by these kits need be carefully interpreted.
{"title":"Questionable accuracy of four ELISA kits in serum Netrin-1 measurement","authors":"Minqi Cai, Qian Zheng, Yiqiang Chen, Siyuan Liu, Huimin Zhu, Bing Bai","doi":"10.1515/labmed-2024-0028","DOIUrl":"https://doi.org/10.1515/labmed-2024-0028","url":null,"abstract":"Abstract Objectives Altered serum Netrin-1 levels have been widely reported in cancer and other clinical diseases and they are often measured by commercial ELISA kits. However, we found the questionable results using these kits and therefore performed this simple study to evaluate their accuracy in detection of serum Netrin-1. Methods Four commonly used commercial kits were collected. The kit standards were serially diluted or spiked into serum samples. The cells with confirmed expression of Netrin-1 and their culture medium, as well as the Netrin-1 controls of each kit were used for the kits to detect. The cell lysate samples and the kit controls were also blotted on a nitrocellulose membrane for detection antibodies of each kit to probe. Results Detection of the Netrin-1 standards in serum by each kit were all affected. Only one kit was able to detect Netrin-1 in the cell lysate or medium. No ELISA kits could detect all Netrin-1 controls of the four kits. None of the detection antibodies correctly probed Netrin-1 in the dot blot. Conclusions The accuracy of these four Netrin-1 ELISA kits is under question. Reported serum Netrin-1 levels based on measurements by these kits need be carefully interpreted.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141361392","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}
Pub Date : 2024-05-15DOI: 10.1515/labmed-2024-0034
Annika Meyer, Johannes Ruthard, T. Streichert
The multifaceted potential of ChatGPT in the medical domain remains underexplored, particularly regarding its application in software development by individuals with a medical background but limited information technology expertise. This study investigates ChatGPT’s utility in creating a laboratory medicine application. Despite minimal programming skills, the authors successfully developed an automated intra-assay, inter-device precision test for immunophenotyping with a shiny user interface, facilitated by ChatGPT. While the coding process was expedited, meticulous oversight and error correction by the authors were imperative. These findings highlight the value of large language models such as ChatGPT in code-based application development for automating work processes in a medical context. Particularly noteworthy is the facilitation of these tasks for non-technically trained medical professionals and its potential for digital medical education.
{"title":"Dear ChatGPT – can you teach me how to program an app for laboratory medicine?","authors":"Annika Meyer, Johannes Ruthard, T. Streichert","doi":"10.1515/labmed-2024-0034","DOIUrl":"https://doi.org/10.1515/labmed-2024-0034","url":null,"abstract":"\u0000 \u0000 \u0000 The multifaceted potential of ChatGPT in the medical domain remains underexplored, particularly regarding its application in software development by individuals with a medical background but limited information technology expertise.\u0000 \u0000 \u0000 \u0000 This study investigates ChatGPT’s utility in creating a laboratory medicine application. Despite minimal programming skills, the authors successfully developed an automated intra-assay, inter-device precision test for immunophenotyping with a shiny user interface, facilitated by ChatGPT. While the coding process was expedited, meticulous oversight and error correction by the authors were imperative.\u0000 \u0000 \u0000 \u0000 These findings highlight the value of large language models such as ChatGPT in code-based application development for automating work processes in a medical context. Particularly noteworthy is the facilitation of these tasks for non-technically trained medical professionals and its potential for digital medical education.\u0000","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140972565","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}
Pub Date : 2024-05-13DOI: 10.1515/labmed-2023-0127
Min Yang, Chao Hu, Jun Huang, Ying Fu, Qi Zhang, Yulan Cheng, Jie Lu, Guiling Li, Jun Zhang
Objectives Anti-mitochondrial antibody (AMA) is not always present in patients with primary biliary cholangitis (PBC). We aimed to determine the additional value of anti-hexokinase 1 (anti-HK1) and anti-kelch-like 12 (anti-KLHL12) antibody in PBC and analyzed the biochemical and immunological parameters of 212 subjects, including PBC patients and healthy controls. Methods Serum anti-gp210 and sp100 antibodies were determined by an immunoblotting test (IBT). Enzyme-linked immunosorbent assay (ELISA) was employed to evaluate anti-HK1 and anti-KLHL12. The diagnostic value of anti-HK1 and anti-KLHL12 to PBC was analyzed by constructing a receiver operating characteristic (ROC) curve. Results ROC analyses didn’t show a very good performance of serum anti-HK1 for PBC diagnosis; the AUC was 0.664 with a sensitivity of 53.3 % and a specificity of 79.2 %. Regarding anti-KLHL12, ROC analysis yielded an AUC of 0.626, with a sensitivity of 45.7 % and a specificity of 93.8 %. For AMA-negative PBC patients, the AUC increased to 0.790 for KLHL12, and 0.708 for HK1. AMA combined with anti-HK1 or anti-KLHL12 antibody significantly improved the diagnostic sensitivity of PBC from 82 to about 95 %, respectively. In AMA-negative PBC patients, the sensitivities for anti-HK1 (62.50 %) and anti-KLHL12 (75 %) antibodies were higher than for anti-gp210 (37.5 %) and anti-sp100 antibody (43.75 %). When these four antibodies were combined, the overall sensitivity increased to 87.5 %. Conclusions The determination of anti-HK1 and anti-KLHL12 facilitates the diagnosis of PBC, particularly in AMA-negative patients. Adding anti-HK1 and anti-KLHL12 antibodies to clinical detection enables early diagnosis and timely treatment, potentially improving patient prognosis.
{"title":"Diagnostic value of anti-hexokinase 1 and anti-kelch-like 12 antibodies in primary biliary cholangitis patients","authors":"Min Yang, Chao Hu, Jun Huang, Ying Fu, Qi Zhang, Yulan Cheng, Jie Lu, Guiling Li, Jun Zhang","doi":"10.1515/labmed-2023-0127","DOIUrl":"https://doi.org/10.1515/labmed-2023-0127","url":null,"abstract":"Objectives Anti-mitochondrial antibody (AMA) is not always present in patients with primary biliary cholangitis (PBC). We aimed to determine the additional value of anti-hexokinase 1 (anti-HK1) and anti-kelch-like 12 (anti-KLHL12) antibody in PBC and analyzed the biochemical and immunological parameters of 212 subjects, including PBC patients and healthy controls. Methods Serum anti-gp210 and sp100 antibodies were determined by an immunoblotting test (IBT). Enzyme-linked immunosorbent assay (ELISA) was employed to evaluate anti-HK1 and anti-KLHL12. The diagnostic value of anti-HK1 and anti-KLHL12 to PBC was analyzed by constructing a receiver operating characteristic (ROC) curve. Results ROC analyses didn’t show a very good performance of serum anti-HK1 for PBC diagnosis; the AUC was 0.664 with a sensitivity of 53.3 % and a specificity of 79.2 %. Regarding anti-KLHL12, ROC analysis yielded an AUC of 0.626, with a sensitivity of 45.7 % and a specificity of 93.8 %. For AMA-negative PBC patients, the AUC increased to 0.790 for KLHL12, and 0.708 for HK1. AMA combined with anti-HK1 or anti-KLHL12 antibody significantly improved the diagnostic sensitivity of PBC from 82 to about 95 %, respectively. In AMA-negative PBC patients, the sensitivities for anti-HK1 (62.50 %) and anti-KLHL12 (75 %) antibodies were higher than for anti-gp210 (37.5 %) and anti-sp100 antibody (43.75 %). When these four antibodies were combined, the overall sensitivity increased to 87.5 %. Conclusions The determination of anti-HK1 and anti-KLHL12 facilitates the diagnosis of PBC, particularly in AMA-negative patients. Adding anti-HK1 and anti-KLHL12 antibodies to clinical detection enables early diagnosis and timely treatment, potentially improving patient prognosis.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140938301","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}
Pub Date : 2024-05-10DOI: 10.1515/labmed-2023-0158
Qiang Guo, Shihai Zhang
Infectious diseases seriously threaten the lives of children. Timely and accurate detection of pathogenic microorganisms and targeted medication are the keys to the diagnosing and treatment of infectious diseases in children. The next-generation metagenomic sequencing technology has attracted great attention in infectious diseases because of its characteristics such as no culture, high throughput, short detection cycle, wide coverage, and a good application prospect. In this paper, we review the studies of metagenomic next-generation sequencing in pediatric infectious diseases and analyze the challenges of its application in pediatric diseases.
{"title":"Clinical applications and challenges of metagenomic next-generation sequencing in the diagnosis of pediatric infectious disease","authors":"Qiang Guo, Shihai Zhang","doi":"10.1515/labmed-2023-0158","DOIUrl":"https://doi.org/10.1515/labmed-2023-0158","url":null,"abstract":"Infectious diseases seriously threaten the lives of children. Timely and accurate detection of pathogenic microorganisms and targeted medication are the keys to the diagnosing and treatment of infectious diseases in children. The next-generation metagenomic sequencing technology has attracted great attention in infectious diseases because of its characteristics such as no culture, high throughput, short detection cycle, wide coverage, and a good application prospect. In this paper, we review the studies of metagenomic next-generation sequencing in pediatric infectious diseases and analyze the challenges of its application in pediatric diseases.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140938309","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}
Pub Date : 2024-05-06DOI: 10.1515/labmed-2023-0131
Weiping Liu, Xia Long, Lulu Chen, Kailan Yang
Objectives In recent years, chemiluminescent microparticle immunoassay (CMIA) has been widely used for determination of high-sensitivity troponin I (hs-cTnI). However, a CMIA analysis is usually affected by the presence of some endogenous or exogenous substances. This case-report aims to unveil the essence of the reoccurrence of false-positive results due to heterophilic antibodies interference with Abbott high-sensitivity cardiac troponin I assay, although the assay method applied a chimeric antibody. Case presentation A 28-year-old female misdiagnosed with myocarditis due to falsely elevated hs-cTnI with an initial test result of 595.0 ng/L considered as critical value was reported. And the false critical value of hs-cTnI reoccurred five times after admission. The heterophilic blocking tube (HBT) procedure caused a decrease in troponin concentrations within the reference values, which suggests the presence of interference from heterophilic antibodies. Conclusions It requires a close and strong collaboration between clinicians and laboratorians to manage the similar case on the interference from heterophilic antibodies. To prevent false-positive results caused by interferences from being used in clinical practice, the clinicians are suggested to contact the laboratorians whenever the clinical picture, historical data and laboratory values are not conclusive.
{"title":"Attention should be paid to false-positive results due to heterophilic antibodies interfering with Abbott high-sensitivity cardiac troponin I assay","authors":"Weiping Liu, Xia Long, Lulu Chen, Kailan Yang","doi":"10.1515/labmed-2023-0131","DOIUrl":"https://doi.org/10.1515/labmed-2023-0131","url":null,"abstract":"Objectives In recent years, chemiluminescent microparticle immunoassay (CMIA) has been widely used for determination of high-sensitivity troponin I (hs-cTnI). However, a CMIA analysis is usually affected by the presence of some endogenous or exogenous substances. This case-report aims to unveil the essence of the reoccurrence of false-positive results due to heterophilic antibodies interference with Abbott high-sensitivity cardiac troponin I assay, although the assay method applied a chimeric antibody. Case presentation A 28-year-old female misdiagnosed with myocarditis due to falsely elevated hs-cTnI with an initial test result of 595.0 ng/L considered as critical value was reported. And the false critical value of hs-cTnI reoccurred five times after admission. The heterophilic blocking tube (HBT) procedure caused a decrease in troponin concentrations within the reference values, which suggests the presence of interference from heterophilic antibodies. Conclusions It requires a close and strong collaboration between clinicians and laboratorians to manage the similar case on the interference from heterophilic antibodies. To prevent false-positive results caused by interferences from being used in clinical practice, the clinicians are suggested to contact the laboratorians whenever the clinical picture, historical data and laboratory values are not conclusive.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888654","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}
Pub Date : 2024-04-18DOI: 10.1515/labmed-2023-0156
Sebastian Sommer, Maximilian Schmutz, Kathrin Hildebrand, Annett Schiwitza, Selinah Benedikt, Maria Eberle, Tatiana Mögele, Aziz Sultan, Lena Reichl, Maria Campillo, Luise Uhrmacher, Ana Antic Nikolic, Ralph Bundschuh, Constantin Lapa, Michaela Kuhlen, Sebastian Dintner, Angela Langer, Bruno Märkl, Thomas Wendler, Kartikay Tehlan, Thomas Kröncke, Maria Wahle, Matthias Mann, Nicolas Casadei, Michaela Pogoda, Simone Hummler, Irmengard Sax, Matthias Schlesner, Boris Kubuschok, Martin Trepel, Rainer Claus
Objectives Liquid biopsy (LBx) provides diagnostic, prognostic and predictive insights for malignant diseases and offers promising applications regarding tumor burden, tumor heterogeneity and clonal evolution. Methods ALPS is a prospective trial for patients with metastatic cancer that comprises sequential collection of LBx samples, tumor tissue, radiological imaging data, clinical information and patient-reported outcomes. Peripheral blood plasma is collected based on the individual patient’s staging intervals and LBx-derived ctDNA analyses are performed using CAncer Personalized Profiling sequencing (CAPP-seq). Results From April 2021 to October 2023, 419 patients have been enrolled. A total of 1,293 LBx samples were collected, 419 samples (100 %) at the beginning of the study and an average of 3 (range 1–12) during the 30-month follow-up period of the current interim analysis. 380 tissue biopsy (TBx) samples (90.7 %) were available at baseline and 39.6 % had ≥1 TBx samples at follow-up. Lung cancer patients are most prevalent in ALPS (n=147), followed by colorectal (n=38), prostate (n=31) and gastroesophageal cancer (n=28). On average, 12.0 ng/mL plasma cell-free DNA (cfDNA) could be isolated. First CAPP-seq analyses in 60 patients comprised 110 samples and demonstrated a detection sensitivity of 0.1 %. Conclusions The first interim analysis of ALPS confirms feasibility for comprehensive longitudinal evaluation of LBx and demonstrates suitability for ctDNA evaluation.
{"title":"Concept and feasibility of the Augsburg longitudinal plasma study (ALPS) – A prospective trial for comprehensive liquid biopsy-based longitudinal monitoring of solid cancer patients","authors":"Sebastian Sommer, Maximilian Schmutz, Kathrin Hildebrand, Annett Schiwitza, Selinah Benedikt, Maria Eberle, Tatiana Mögele, Aziz Sultan, Lena Reichl, Maria Campillo, Luise Uhrmacher, Ana Antic Nikolic, Ralph Bundschuh, Constantin Lapa, Michaela Kuhlen, Sebastian Dintner, Angela Langer, Bruno Märkl, Thomas Wendler, Kartikay Tehlan, Thomas Kröncke, Maria Wahle, Matthias Mann, Nicolas Casadei, Michaela Pogoda, Simone Hummler, Irmengard Sax, Matthias Schlesner, Boris Kubuschok, Martin Trepel, Rainer Claus","doi":"10.1515/labmed-2023-0156","DOIUrl":"https://doi.org/10.1515/labmed-2023-0156","url":null,"abstract":"Objectives Liquid biopsy (LBx) provides diagnostic, prognostic and predictive insights for malignant diseases and offers promising applications regarding tumor burden, tumor heterogeneity and clonal evolution. Methods ALPS is a prospective trial for patients with metastatic cancer that comprises sequential collection of LBx samples, tumor tissue, radiological imaging data, clinical information and patient-reported outcomes. Peripheral blood plasma is collected based on the individual patient’s staging intervals and LBx-derived ctDNA analyses are performed using CAncer Personalized Profiling sequencing (CAPP-seq). Results From April 2021 to October 2023, 419 patients have been enrolled. A total of 1,293 LBx samples were collected, 419 samples (100 %) at the beginning of the study and an average of 3 (range 1–12) during the 30-month follow-up period of the current interim analysis. 380 tissue biopsy (TBx) samples (90.7 %) were available at baseline and 39.6 % had ≥1 TBx samples at follow-up. Lung cancer patients are most prevalent in ALPS (n=147), followed by colorectal (n=38), prostate (n=31) and gastroesophageal cancer (n=28). On average, 12.0 ng/mL plasma cell-free DNA (cfDNA) could be isolated. First CAPP-seq analyses in 60 patients comprised 110 samples and demonstrated a detection sensitivity of 0.1 %. Conclusions The first interim analysis of ALPS confirms feasibility for comprehensive longitudinal evaluation of LBx and demonstrates suitability for ctDNA evaluation.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140630741","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}
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