Next generation immuno-oncology biomarkers in gastrointestinal cancer: what does the future hold?
Expert Rev Mol Diagn. 2023 Aug 31:1-11. doi: 10.1080/14737159.2023.2252739. Online ahead of print.ABSTRACTINTRODUCTION: Gastrointestinal (GI) cancers pose a significant health burden worldwide, necessitating advancements in diagnostic and treatment approaches. One promising avenue is the utilization of next-generation biomarkers, which hold the potential to revolutionize GI cancer management.AREAS COVERED: This review explores the latest breakthroughs and expert opinions surrounding the application of next-generation immunotherapy biomarkers. It encompasses various aspects of the currently utilized biomarkers of immunother...
Source: Expert Review of Molecular Diagnostics - August 29, 2023 Category: Laboratory Medicine Authors: Hassan Abushukair Obada Ababneh Ayah Al-Bzour Ibrahim Halil Sahin Anwaar Saeed Source Type: research

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29.ABSTRACTINTRODUCTION: Primary mitochondrial diseases (PMDs) comprise a large and heterogeneous group of genetic diseases that result from pathogenic variants in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Widespread adoption of next-generation sequencing (NGS) has improved the efficiency and accuracy of mtDNA diagnoses; however, several challenges remain.AREAS COVERED: In this review, we briefly summarize the current state of the art in molecular diagnostics for mtDNA and consider the implications of improved ...
Source: Expert Review of Molecular Diagnostics - August 29, 2023 Category: Laboratory Medicine Authors: William L Macken Micol Falabella Chiara Pizzamiglio Cathy E Woodward Elizabeth Scotchman Lyn S Chitty James M Polke Enrico Bugiardini Michael G Hanna Jana Vandrovcova Natalie Chandler Robyn Labrum Robert D S Pitceathly Source Type: research

Next generation immuno-oncology biomarkers in gastrointestinal cancer: what does the future hold?
Expert Rev Mol Diagn. 2023 Aug 29. doi: 10.1080/14737159.2023.2252739. Online ahead of print.ABSTRACTINTRODUCTION: Gastrointestinal (GI) cancers pose a significant health burden worldwide, necessitating advancements in diagnostic and treatment approaches. One promising avenue is the utilization of next-generation biomarkers, which hold the potential to revolutionize GI cancer management.AREAS COVERED: This review explores the latest breakthroughs and expert opinions surrounding the application of next generation immunotherapy biomarkers. It encompasses various aspects of the currently utilized biomarkers of immunotherapy i...
Source: Expert Review of Molecular Diagnostics - August 29, 2023 Category: Laboratory Medicine Authors: Hassan Abushukair Obada Ababneh Ayah Al-Bzour Ibrahim Halil Sahin Anwaar Saeed Source Type: research

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29.ABSTRACTINTRODUCTION: Primary mitochondrial diseases (PMDs) comprise a large and heterogeneous group of genetic diseases that result from pathogenic variants in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Widespread adoption of next-generation sequencing (NGS) has improved the efficiency and accuracy of mtDNA diagnoses; however, several challenges remain.AREAS COVERED: In this review, we briefly summarize the current state of the art in molecular diagnostics for mtDNA and consider the implications of improved ...
Source: Expert Review of Molecular Diagnostics - August 29, 2023 Category: Laboratory Medicine Authors: William L Macken Micol Falabella Chiara Pizzamiglio Cathy E Woodward Elizabeth Scotchman Lyn S Chitty James M Polke Enrico Bugiardini Michael G Hanna Jana Vandrovcova Natalie Chandler Robyn Labrum Robert D S Pitceathly Source Type: research

Next generation immuno-oncology biomarkers in gastrointestinal cancer: what does the future hold?
Expert Rev Mol Diagn. 2023 Aug 29. doi: 10.1080/14737159.2023.2252739. Online ahead of print.ABSTRACTINTRODUCTION: Gastrointestinal (GI) cancers pose a significant health burden worldwide, necessitating advancements in diagnostic and treatment approaches. One promising avenue is the utilization of next-generation biomarkers, which hold the potential to revolutionize GI cancer management.AREAS COVERED: This review explores the latest breakthroughs and expert opinions surrounding the application of next generation immunotherapy biomarkers. It encompasses various aspects of the currently utilized biomarkers of immunotherapy i...
Source: Expert Review of Molecular Diagnostics - August 29, 2023 Category: Laboratory Medicine Authors: Hassan Abushukair Obada Ababneh Ayah Al-Bzour Ibrahim Halil Sahin Anwaar Saeed Source Type: research

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
Expert Rev Mol Diagn. 2023 Aug 29:1-18. doi: 10.1080/14737159.2023.2241365. Online ahead of print.ABSTRACTINTRODUCTION: Primary mitochondrial diseases (PMDs) comprise a large and heterogeneous group of genetic diseases that result from pathogenic variants in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Widespread adoption of next-generation sequencing (NGS) has improved the efficiency and accuracy of mtDNA diagnoses; however, several challenges remain.AREAS COVERED: In this review, we briefly summarize the current state of the art in molecular diagnostics for mtDNA and consider the implications of improved whole...
Source: Expert Review of Molecular Diagnostics - August 29, 2023 Category: Laboratory Medicine Authors: William L Macken Micol Falabella Chiara Pizzamiglio Cathy E Woodward Elizabeth Scotchman Lyn S Chitty James M Polke Enrico Bugiardini Michael G Hanna Jana Vandrovcova Natalie Chandler Robyn Labrum Robert D S Pitceathly Source Type: research

Cancer cell-derived extracellular vesicles activate hepatic stellate cells in colorectal cancer
Expert Rev Mol Diagn. 2023 Aug 21:1-7. doi: 10.1080/14737159.2023.2246893. Online ahead of print.ABSTRACTColorectal cancer (CRC) is the 2nd leading cause of cancer-related deaths worldwide, primarily due to the development of metastatic disease. The liver is the most frequently affected site. The metastatic cascade relies on a complex interaction between the immune system, tumor, and distant organs. Communication between the tumor and the metastatic site can be mediated by tumor-derived extracellular vesicles (EVs) and their cargo. The mechanisms underlying this process are starting to be understood through research that h...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Bhavik Y Patel Rahul Bhome Daniel S K Liu Elisa Giovannetti Nabeel Merali John N Primrose Alex H Mirnezami Timothy A Rockall Nicola Annels Adam E Frampton Source Type: research

Efficient screening strategies for severe combined immunodeficiencies in newborns
Expert Rev Mol Diagn. 2023 Aug 21:1-11. doi: 10.1080/14737159.2023.2244879. Online ahead of print.ABSTRACTINTRODUCTION: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), affecting both cellular and humoral immunity. Without curative treatment such as hematopoietic stem cell transplantation or gene therapy, affected infants die within the first year of life. Due to the severity of the disease, asymptomatic status early in life, and improved survival in the absence of pretransplant infections, SCID was considered a suitable candidate for newborn screening (NBS).AREAS ...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Maartje Blom Robbert G M Bredius Miriam van der Burg Source Type: research

Cancer cell-derived extracellular vesicles activate hepatic stellate cells in colorectal cancer
Expert Rev Mol Diagn. 2023 Aug 21:1-7. doi: 10.1080/14737159.2023.2246893. Online ahead of print.ABSTRACTColorectal cancer (CRC) is the 2nd leading cause of cancer-related deaths worldwide, primarily due to the development of metastatic disease. The liver is the most frequently affected site. The metastatic cascade relies on a complex interaction between the immune system, tumor, and distant organs. Communication between the tumor and the metastatic site can be mediated by tumor-derived extracellular vesicles (EVs) and their cargo. The mechanisms underlying this process are starting to be understood through research that h...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Bhavik Y Patel Rahul Bhome Daniel S K Liu Elisa Giovannetti Nabeel Merali John N Primrose Alex H Mirnezami Timothy A Rockall Nicola Annels Adam E Frampton Source Type: research

Efficient screening strategies for severe combined immunodeficiencies in newborns
Expert Rev Mol Diagn. 2023 Aug 21:1-11. doi: 10.1080/14737159.2023.2244879. Online ahead of print.ABSTRACTINTRODUCTION: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), affecting both cellular and humoral immunity. Without curative treatment such as hematopoietic stem cell transplantation or gene therapy, affected infants die within the first year of life. Due to the severity of the disease, asymptomatic status early in life, and improved survival in the absence of pretransplant infections, SCID was considered a suitable candidate for newborn screening (NBS).AREAS ...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Maartje Blom Robbert G M Bredius Miriam van der Burg Source Type: research

Cancer cell-derived extracellular vesicles activate hepatic stellate cells in colorectal cancer
Expert Rev Mol Diagn. 2023 Aug 21:1-7. doi: 10.1080/14737159.2023.2246893. Online ahead of print.ABSTRACTColorectal cancer (CRC) is the 2nd leading cause of cancer-related deaths worldwide, primarily due to the development of metastatic disease. The liver is the most frequently affected site. The metastatic cascade relies on a complex interaction between the immune system, tumor, and distant organs. Communication between the tumor and the metastatic site can be mediated by tumor-derived extracellular vesicles (EVs) and their cargo. The mechanisms underlying this process are starting to be understood through research that h...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Bhavik Y Patel Rahul Bhome Daniel S K Liu Elisa Giovannetti Nabeel Merali John N Primrose Alex H Mirnezami Timothy A Rockall Nicola Annels Adam E Frampton Source Type: research

Efficient screening strategies for severe combined immunodeficiencies in newborns
Expert Rev Mol Diagn. 2023 Aug 21:1-11. doi: 10.1080/14737159.2023.2244879. Online ahead of print.ABSTRACTINTRODUCTION: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), affecting both cellular and humoral immunity. Without curative treatment such as hematopoietic stem cell transplantation or gene therapy, affected infants die within the first year of life. Due to the severity of the disease, asymptomatic status early in life, and improved survival in the absence of pretransplant infections, SCID was considered a suitable candidate for newborn screening (NBS).AREAS ...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Maartje Blom Robbert G M Bredius Miriam van der Burg Source Type: research

Cancer cell-derived extracellular vesicles activate hepatic stellate cells in colorectal cancer
Expert Rev Mol Diagn. 2023 Aug 21:1-7. doi: 10.1080/14737159.2023.2246893. Online ahead of print.ABSTRACTColorectal cancer (CRC) is the 2nd leading cause of cancer-related deaths worldwide, primarily due to the development of metastatic disease. The liver is the most frequently affected site. The metastatic cascade relies on a complex interaction between the immune system, tumor, and distant organs. Communication between the tumor and the metastatic site can be mediated by tumor-derived extracellular vesicles (EVs) and their cargo. The mechanisms underlying this process are starting to be understood through research that h...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Bhavik Y Patel Rahul Bhome Daniel S K Liu Elisa Giovannetti Nabeel Merali John N Primrose Alex H Mirnezami Timothy A Rockall Nicola Annels Adam E Frampton Source Type: research

Efficient screening strategies for severe combined immunodeficiencies in newborns
Expert Rev Mol Diagn. 2023 Aug 21:1-11. doi: 10.1080/14737159.2023.2244879. Online ahead of print.ABSTRACTINTRODUCTION: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), affecting both cellular and humoral immunity. Without curative treatment such as hematopoietic stem cell transplantation or gene therapy, affected infants die within the first year of life. Due to the severity of the disease, asymptomatic status early in life, and improved survival in the absence of pretransplant infections, SCID was considered a suitable candidate for newborn screening (NBS).AREAS ...
Source: Expert Review of Molecular Diagnostics - August 21, 2023 Category: Laboratory Medicine Authors: Maartje Blom Robbert G M Bredius Miriam van der Burg Source Type: research