Pub Date : 2022-08-01DOI: 10.1515/labmed-2022-0071
Matthias Mack, Julian Broche, Stephen George, Zahra Hajjari, F. Janke, Lavanya Ranganathan, Mohammadreza Ashouri, S. Bleul, A. Desuki, Cecilia Engels, S. Fliedner, N. Hartmann, M. Hummel, M. Janning, Alexander Kiel, T. Köhler, Sebastian E. Koschade, M. Lablans, M. Lambarki, S. Loges, S. Lueong, S. Meyer, S. Ossowski, F. Scherer, C. Schroeder, P. Skowronek, C. Thiede, B. Uhl, J. Vehreschild, N. von Bubnoff, Sebastian A. Wagner, Tamara V. Werner, C. Westphalen, P. Fresser, H. Sültmann, I. Tinhofer, C. Winter
Abstract Testing for genetic alterations in tumor tissue allows clinicians to identify patients who most likely will benefit from molecular targeted treatment. EXLIQUID – exploiting liquid biopsies to advance cancer precision medicine – investigates the potential of additional non-invasive tools for guiding therapy decisions and monitoring of advanced cancer patients. The term “liquid biopsy” (LB) refers to non-invasive analysis of tumor-derived circulating material such as cell-free DNA in blood samples from cancer patients. Although recent technological advances allow sensitive and specific detection of LB biomarkers, only few LB assays have entered clinical routine to date. EXLIQUID is a German Cancer Consortium (DKTK)-wide joint funding project that aims at establishing LBs as a minimally-invasive tool to analyze molecular changes in circulating tumor DNA (ctDNA). Here, we present the structure, clinical aim, and methodical approach of the new DKTK EXLIQUID consortium. Within EXLIQUID, we will set up a multicenter repository of high-quality LB samples from patients participating in DKTK MASTER and local molecular tumor boards, which use molecular profiles of tumor tissues to guide targeted therapies. We will develop LB assays for monitoring of therapy efficacy by the analysis of tumor mutant variants and tumor-specific DNA methylation patterns in ctDNA from these patients. By bringing together LB experts from all DKTK partner sites and exploiting the diversity of their particular expertise, complementary skills and technologies, the EXLIQUID consortium addresses the challenges of translating LBs into the clinic. The DKTK structure provides EXLIQUID a unique position for the identification of liquid biomarkers even in less common tumor types, thereby extending the group of patients benefitting from non-invasive LB testing. Besides its scientific aims, EXLIQUID is building a valuable precision oncology cohort and LB platform which will be available for future collaborative research studies within the DKTK and beyond.
{"title":"The DKTK EXLIQUID consortium – exploiting liquid biopsies to advance cancer precision medicine for molecular tumor board patients","authors":"Matthias Mack, Julian Broche, Stephen George, Zahra Hajjari, F. Janke, Lavanya Ranganathan, Mohammadreza Ashouri, S. Bleul, A. Desuki, Cecilia Engels, S. Fliedner, N. Hartmann, M. Hummel, M. Janning, Alexander Kiel, T. Köhler, Sebastian E. Koschade, M. Lablans, M. Lambarki, S. Loges, S. Lueong, S. Meyer, S. Ossowski, F. Scherer, C. Schroeder, P. Skowronek, C. Thiede, B. Uhl, J. Vehreschild, N. von Bubnoff, Sebastian A. Wagner, Tamara V. Werner, C. Westphalen, P. Fresser, H. Sültmann, I. Tinhofer, C. Winter","doi":"10.1515/labmed-2022-0071","DOIUrl":"https://doi.org/10.1515/labmed-2022-0071","url":null,"abstract":"Abstract Testing for genetic alterations in tumor tissue allows clinicians to identify patients who most likely will benefit from molecular targeted treatment. EXLIQUID – exploiting liquid biopsies to advance cancer precision medicine – investigates the potential of additional non-invasive tools for guiding therapy decisions and monitoring of advanced cancer patients. The term “liquid biopsy” (LB) refers to non-invasive analysis of tumor-derived circulating material such as cell-free DNA in blood samples from cancer patients. Although recent technological advances allow sensitive and specific detection of LB biomarkers, only few LB assays have entered clinical routine to date. EXLIQUID is a German Cancer Consortium (DKTK)-wide joint funding project that aims at establishing LBs as a minimally-invasive tool to analyze molecular changes in circulating tumor DNA (ctDNA). Here, we present the structure, clinical aim, and methodical approach of the new DKTK EXLIQUID consortium. Within EXLIQUID, we will set up a multicenter repository of high-quality LB samples from patients participating in DKTK MASTER and local molecular tumor boards, which use molecular profiles of tumor tissues to guide targeted therapies. We will develop LB assays for monitoring of therapy efficacy by the analysis of tumor mutant variants and tumor-specific DNA methylation patterns in ctDNA from these patients. By bringing together LB experts from all DKTK partner sites and exploiting the diversity of their particular expertise, complementary skills and technologies, the EXLIQUID consortium addresses the challenges of translating LBs into the clinic. The DKTK structure provides EXLIQUID a unique position for the identification of liquid biomarkers even in less common tumor types, thereby extending the group of patients benefitting from non-invasive LB testing. Besides its scientific aims, EXLIQUID is building a valuable precision oncology cohort and LB platform which will be available for future collaborative research studies within the DKTK and beyond.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43499520","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 : 2022-08-01DOI: 10.1515/labmed-2022-0050
G. Hoermann
Abstract Clonal hematopoiesis of indeterminate potential (CHIP) is a hematologic precursor lesion that is defined by the presence of somatic mutations in peripheral blood cells but without evidence for the presence of leukemia or another hematologic neoplasm. CHIP is frequent in elderly individuals and can be detected as incidental finding in liquid profiling of cell-free DNA. While liquid profiling assays aim to reduce the biological noise generated by CHIP and to discriminate solid cancer-associated from CHIP-associated mutation profiles, the finding of CHIP is of potential clinical relevance at its own. Overall, CHIP is associated with a moderate risk of progression to an overt hematologic neoplasm of 1% per year. The risk increases substantially in patients with unexplained blood count abnormalities, multiple mutations, or specific patterns of mutations. In patients with solid cancer, the presence of CHIP increases the risk for development of treatment-related myeloid neoplasms. In addition, CHIP has been associated with a number of non-hematological diseases and represents a previously unrecognized major risk factor for cardiovascular disease. The management of individuals diagnosed with CHIP includes both hematologic and cardiovascular risk assessment in a multidisciplinary setting. Additional evidence from interventional studies is needed to integrate CHIP into a personalized treatment approach for patients with solid cancer.
{"title":"Clonal hematopoiesis of indeterminate potential: clinical relevance of an incidental finding in liquid profiling","authors":"G. Hoermann","doi":"10.1515/labmed-2022-0050","DOIUrl":"https://doi.org/10.1515/labmed-2022-0050","url":null,"abstract":"Abstract Clonal hematopoiesis of indeterminate potential (CHIP) is a hematologic precursor lesion that is defined by the presence of somatic mutations in peripheral blood cells but without evidence for the presence of leukemia or another hematologic neoplasm. CHIP is frequent in elderly individuals and can be detected as incidental finding in liquid profiling of cell-free DNA. While liquid profiling assays aim to reduce the biological noise generated by CHIP and to discriminate solid cancer-associated from CHIP-associated mutation profiles, the finding of CHIP is of potential clinical relevance at its own. Overall, CHIP is associated with a moderate risk of progression to an overt hematologic neoplasm of 1% per year. The risk increases substantially in patients with unexplained blood count abnormalities, multiple mutations, or specific patterns of mutations. In patients with solid cancer, the presence of CHIP increases the risk for development of treatment-related myeloid neoplasms. In addition, CHIP has been associated with a number of non-hematological diseases and represents a previously unrecognized major risk factor for cardiovascular disease. The management of individuals diagnosed with CHIP includes both hematologic and cardiovascular risk assessment in a multidisciplinary setting. Additional evidence from interventional studies is needed to integrate CHIP into a personalized treatment approach for patients with solid cancer.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44758246","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 : 2022-08-01DOI: 10.1515/labmed-2022-0023
Elena Kypri, M. Ioannides, A. Achilleos, G. Koumbaris, P. Patsalis, M. Stumm
Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development the screening has expanded to other genetic conditions such as sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplications, structural chromosomal aberrations and monogenic diseases. Meanwhile, commercial providers are offering a number of different tests, with variable performance, the application of which needs to be carefully evaluated to apply to the true needs of clinical practice. In our review we present the different NIPT methodologies and discuss the main strengths and limitations in the context of providing a responsible pregnancy management.
{"title":"Non-invasive prenatal screening tests – update 2022","authors":"Elena Kypri, M. Ioannides, A. Achilleos, G. Koumbaris, P. Patsalis, M. Stumm","doi":"10.1515/labmed-2022-0023","DOIUrl":"https://doi.org/10.1515/labmed-2022-0023","url":null,"abstract":"Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development the screening has expanded to other genetic conditions such as sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplications, structural chromosomal aberrations and monogenic diseases. Meanwhile, commercial providers are offering a number of different tests, with variable performance, the application of which needs to be carefully evaluated to apply to the true needs of clinical practice. In our review we present the different NIPT methodologies and discuss the main strengths and limitations in the context of providing a responsible pregnancy management.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48521245","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 : 2022-08-01DOI: 10.1515/labmed-2022-0031
Angela Oberhofer, A. Bronkhorst, Vida Ungerer, S. Holdenrieder
Abstract Programmed cell death, accidental cell degradation and active extrusion constantly lead to the release of DNA fragments into human body fluids from virtually all cell and tissue types. It is widely accepted that these cell-free DNA (cfDNA) molecules retain the cell-type specific genetic and epigenetic features. Particularly, cfDNA in plasma or serum has been utilized for molecular diagnostics. The current clinically implemented liquid biopsy approaches are mostly based on detecting genetic differences in cfDNA molecules from healthy and diseased cells. Their diagnostic potential is limited to pathologies involving genetic alterations, by the low proportion of cfDNA molecules carrying the mutation(s) relative to the total cfDNA pool, and by the detection limit of employed techniques. Recently, research efforts turned to epigenetic features of cfDNA molecules and found that the tissue-of-origin of individual cfDNA molecules can be inferred from epigenetic characteristics. Analysis of, e.g., methylation patterns, nucleosome or transcription factor binding site occupancies, fragment size distribution or fragment end motifs, and histone modifications determined the cell or tissue-of-origin of individual cfDNA molecules. With this tissue-of origin-analysis, it is possible to estimate the contributions of different tissues to the total cfDNA pool in body fluids and find tissues with increased cell death (pathologic condition), expanding the portfolio of liquid biopsies beyond genetics and towards a wide range of pathologies, such as autoimmune disorders, cardiovascular diseases, and inflammation, among many others. In this review, we give an overview on the status of tissue-of-origin approaches and focus on what is needed to exploit the full potential of liquid biopsies towards minimally invasive screening methods with broad clinical applications.
{"title":"Profiling disease and tissue-specific epigenetic signatures in cell-free DNA","authors":"Angela Oberhofer, A. Bronkhorst, Vida Ungerer, S. Holdenrieder","doi":"10.1515/labmed-2022-0031","DOIUrl":"https://doi.org/10.1515/labmed-2022-0031","url":null,"abstract":"Abstract Programmed cell death, accidental cell degradation and active extrusion constantly lead to the release of DNA fragments into human body fluids from virtually all cell and tissue types. It is widely accepted that these cell-free DNA (cfDNA) molecules retain the cell-type specific genetic and epigenetic features. Particularly, cfDNA in plasma or serum has been utilized for molecular diagnostics. The current clinically implemented liquid biopsy approaches are mostly based on detecting genetic differences in cfDNA molecules from healthy and diseased cells. Their diagnostic potential is limited to pathologies involving genetic alterations, by the low proportion of cfDNA molecules carrying the mutation(s) relative to the total cfDNA pool, and by the detection limit of employed techniques. Recently, research efforts turned to epigenetic features of cfDNA molecules and found that the tissue-of-origin of individual cfDNA molecules can be inferred from epigenetic characteristics. Analysis of, e.g., methylation patterns, nucleosome or transcription factor binding site occupancies, fragment size distribution or fragment end motifs, and histone modifications determined the cell or tissue-of-origin of individual cfDNA molecules. With this tissue-of origin-analysis, it is possible to estimate the contributions of different tissues to the total cfDNA pool in body fluids and find tissues with increased cell death (pathologic condition), expanding the portfolio of liquid biopsies beyond genetics and towards a wide range of pathologies, such as autoimmune disorders, cardiovascular diseases, and inflammation, among many others. In this review, we give an overview on the status of tissue-of-origin approaches and focus on what is needed to exploit the full potential of liquid biopsies towards minimally invasive screening methods with broad clinical applications.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49094614","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 : 2022-07-19DOI: 10.1515/labmed-2022-0047
Amanda Salviano-Silva, C. Maire, K. Lamszus, F. Ricklefs
Abstract Liquid biopsies are a valuable non-invasive biomarker source for the diagnosis, prognosis and monitoring of cancer patients. The detection of circulating cell-free DNA (cfDNA) derived from tumor cells (ctDNA) has emerged as a promising clinical approach, as their levels are elevated in many cancers and contains tumor-related mutations and specific methylation patterns. ctDNA can be released from tumor cells into the bloodstream, either linked to extracellular vesicles (EV-DNA) or in an EV-free form when associated with nucleosomes and other proteins, or even as a component of macromolecular structures such as neutrophil extracellular traps (NET DNA). These different types of cfDNA can mirror cancer progression and predict patient outcome. This review presents the recent benefits of cfDNA in cancer, distinguishing between EV-DNA and EV-free DNA, and highlights their clinical utility.
{"title":"Circulating cell-free DNA and its clinical utility in cancer","authors":"Amanda Salviano-Silva, C. Maire, K. Lamszus, F. Ricklefs","doi":"10.1515/labmed-2022-0047","DOIUrl":"https://doi.org/10.1515/labmed-2022-0047","url":null,"abstract":"Abstract Liquid biopsies are a valuable non-invasive biomarker source for the diagnosis, prognosis and monitoring of cancer patients. The detection of circulating cell-free DNA (cfDNA) derived from tumor cells (ctDNA) has emerged as a promising clinical approach, as their levels are elevated in many cancers and contains tumor-related mutations and specific methylation patterns. ctDNA can be released from tumor cells into the bloodstream, either linked to extracellular vesicles (EV-DNA) or in an EV-free form when associated with nucleosomes and other proteins, or even as a component of macromolecular structures such as neutrophil extracellular traps (NET DNA). These different types of cfDNA can mirror cancer progression and predict patient outcome. This review presents the recent benefits of cfDNA in cancer, distinguishing between EV-DNA and EV-free DNA, and highlights their clinical utility.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44492565","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 : 2022-07-18DOI: 10.1515/labmed-2022-0064
D. Enderle, M. Noerholm
Abstract The diagnostic potential of exosomes and extracellular vesicles (EVs) for liquid biopsies was first demonstrated over a decade ago, but despite a lot of progress in the scientific field there are still very few applications of EVs that are ready for implementation in clinical laboratories for routine diagnostic use. Despite good options for routine isolation of EVs and a wide analyte target space for assay development (incl. RNA, DNA, proteins and intact EVs) assessable by standard detection technologies, the attrition rate in translating biomarker reports in the academic literature to clinical assays is very high. While there are examples of successful development, the largest obstacle to increased clinical utilization is the lack of good biomarkers that can withstand rigid clinical validation, and which make use of the EVs’ unique capabilities as a biomarker platform.
{"title":"Are extracellular vesicles ready for the clinical laboratory?","authors":"D. Enderle, M. Noerholm","doi":"10.1515/labmed-2022-0064","DOIUrl":"https://doi.org/10.1515/labmed-2022-0064","url":null,"abstract":"Abstract The diagnostic potential of exosomes and extracellular vesicles (EVs) for liquid biopsies was first demonstrated over a decade ago, but despite a lot of progress in the scientific field there are still very few applications of EVs that are ready for implementation in clinical laboratories for routine diagnostic use. Despite good options for routine isolation of EVs and a wide analyte target space for assay development (incl. RNA, DNA, proteins and intact EVs) assessable by standard detection technologies, the attrition rate in translating biomarker reports in the academic literature to clinical assays is very high. While there are examples of successful development, the largest obstacle to increased clinical utilization is the lack of good biomarkers that can withstand rigid clinical validation, and which make use of the EVs’ unique capabilities as a biomarker platform.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41355358","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 : 2022-07-18DOI: 10.1515/labmed-2022-0029
S. Holdenrieder, Vida Ungerer, Angela Oberhofer, A. Bronkhorst
Abstract Early detection is crucial for optimal treatment and prognosis of cancer. New approaches for pan-cancer screening comprise the comprehensive characterization of circulating tumor DNA (ctDNA) in plasma by next generation sequencing and molecular profiling of mutations and methylation patterns, as well as fragmentation analysis. These promise the accurate detection and localization of multiple cancers in early disease stages. However, studies with real screening populations have to show their clinical utility and practicability.
{"title":"Pan-cancer screening by circulating tumor DNA (ctDNA) – recent breakthroughs and chronic pitfalls","authors":"S. Holdenrieder, Vida Ungerer, Angela Oberhofer, A. Bronkhorst","doi":"10.1515/labmed-2022-0029","DOIUrl":"https://doi.org/10.1515/labmed-2022-0029","url":null,"abstract":"Abstract Early detection is crucial for optimal treatment and prognosis of cancer. New approaches for pan-cancer screening comprise the comprehensive characterization of circulating tumor DNA (ctDNA) in plasma by next generation sequencing and molecular profiling of mutations and methylation patterns, as well as fragmentation analysis. These promise the accurate detection and localization of multiple cancers in early disease stages. However, studies with real screening populations have to show their clinical utility and practicability.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41854124","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 Gastric cancer (GC) is a common gastrointestinal tumor that threatens human health. The sensitivity and specificity of traditional tumor markers do not meet the requirements for detection of GC. Long noncoding RNAs (lncRNAs) are crucial for the development of tumors. Hence, in this study, LINC01060 will be evaluated for its diagnostic value in GC. Methods Quantitative real-time PCR (qRT-PCR) was used to determine the relative expression levels of LINC01060 in GC tissues and blood samples. In addition, the relationship between the expression levels of LINC01060 and the clinicopathological features of the patients was analyzed. Receiver operating characteristic (ROC) curves were utilized to assess the diagnostic efficacy of LINC01060, carcinoembryonic antigen (CEA), and carbohydrate antigen 19-9 (CA19-9) in GC. Results The expression of LINC01060 was found to have decreased in GC tissues (p<0.01). Notably, compared with peptic ulcers and healthy controls, the expression levels of LINC01060 in the whole blood of GC patients was found to have decreased. Furthermore, LINC01060 exhibited higher sensitivity and specificity than CEA and CA19-9 in differentiating GC from healthy controls (AUC=0.872, sensitivity=96.0%, specificity=76.7%). With regard to traditional biomarkers, the AUC of CEA and CA19-9 were 0.715 (sensitivity=86.0%, specificity=50.0%) and 0.634 (sensitivity=63.0%, specificity=76.0%), respectively. Remarkably, the other gastrointestinal tumors did not show any statistically significant differences. The presence of LINC01060 was not found to be significantly associated with characteristic clinicopathological factors. Conclusions LINC01060 might be useful as a biomarker for diagnosing GC and distinguishing GC patients from healthy controls.
{"title":"Diagnostic value of long noncoding RNA LINC01060 in gastric cancer","authors":"Junhui Huang, Junrong Wu, Zuojian Hu, Cuiju Mo, Hua-ping Chen, Liuyi Lu, Mingxing Chen, Xiamei Huang, Xue Qin","doi":"10.1515/labmed-2022-0010","DOIUrl":"https://doi.org/10.1515/labmed-2022-0010","url":null,"abstract":"Abstract Objectives Gastric cancer (GC) is a common gastrointestinal tumor that threatens human health. The sensitivity and specificity of traditional tumor markers do not meet the requirements for detection of GC. Long noncoding RNAs (lncRNAs) are crucial for the development of tumors. Hence, in this study, LINC01060 will be evaluated for its diagnostic value in GC. Methods Quantitative real-time PCR (qRT-PCR) was used to determine the relative expression levels of LINC01060 in GC tissues and blood samples. In addition, the relationship between the expression levels of LINC01060 and the clinicopathological features of the patients was analyzed. Receiver operating characteristic (ROC) curves were utilized to assess the diagnostic efficacy of LINC01060, carcinoembryonic antigen (CEA), and carbohydrate antigen 19-9 (CA19-9) in GC. Results The expression of LINC01060 was found to have decreased in GC tissues (p<0.01). Notably, compared with peptic ulcers and healthy controls, the expression levels of LINC01060 in the whole blood of GC patients was found to have decreased. Furthermore, LINC01060 exhibited higher sensitivity and specificity than CEA and CA19-9 in differentiating GC from healthy controls (AUC=0.872, sensitivity=96.0%, specificity=76.7%). With regard to traditional biomarkers, the AUC of CEA and CA19-9 were 0.715 (sensitivity=86.0%, specificity=50.0%) and 0.634 (sensitivity=63.0%, specificity=76.0%), respectively. Remarkably, the other gastrointestinal tumors did not show any statistically significant differences. The presence of LINC01060 was not found to be significantly associated with characteristic clinicopathological factors. Conclusions LINC01060 might be useful as a biomarker for diagnosing GC and distinguishing GC patients from healthy controls.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43801673","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 : 2022-07-04DOI: 10.1515/labmed-2022-0026
M. Froelich, S. Schönberg, M. Neumaier, V. Haselmann
Abstract The liquid profiling approach is currently at the threshold of translation from research application in various clinical trials to introduction into the management of cancer patients in the context of clinical care. Routine application has focused primarily on the analysis of single blood-based biomarkers for companion diagnostics. However, liquid profiling promises much broader diagnostic potential, which is discussed and illustrated in this manuscript through several case reports. These clinical cases range from identification of druggable targets to the detection of subclonal resistance mechanisms. In addition, liquid profiling can be used in clinical practice to identify complex molecular patterns or as a personalized tumor marker for patient-specific monitoring of response to treatment. These examples highlight both the value and limitations of liquid profiling in various clinical settings, which could be overcome by an integrative diagnostic approach with imaging techniques. The complementary advantages of both diagnostics approaches will allow combining high sensitivity with genetic tumor profiling and topologic assignment. Therefore, we advocate interdisciplinary integrated collaboration between laboratory and imaging experts to unravel the potentials of precision diagnostics in cancer care.
{"title":"Status of liquid profiling in precision oncology – the need for integrative diagnostics for successful implementation into standard care","authors":"M. Froelich, S. Schönberg, M. Neumaier, V. Haselmann","doi":"10.1515/labmed-2022-0026","DOIUrl":"https://doi.org/10.1515/labmed-2022-0026","url":null,"abstract":"Abstract The liquid profiling approach is currently at the threshold of translation from research application in various clinical trials to introduction into the management of cancer patients in the context of clinical care. Routine application has focused primarily on the analysis of single blood-based biomarkers for companion diagnostics. However, liquid profiling promises much broader diagnostic potential, which is discussed and illustrated in this manuscript through several case reports. These clinical cases range from identification of druggable targets to the detection of subclonal resistance mechanisms. In addition, liquid profiling can be used in clinical practice to identify complex molecular patterns or as a personalized tumor marker for patient-specific monitoring of response to treatment. These examples highlight both the value and limitations of liquid profiling in various clinical settings, which could be overcome by an integrative diagnostic approach with imaging techniques. The complementary advantages of both diagnostics approaches will allow combining high sensitivity with genetic tumor profiling and topologic assignment. Therefore, we advocate interdisciplinary integrated collaboration between laboratory and imaging experts to unravel the potentials of precision diagnostics in cancer care.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42677660","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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