Clinical Exome Reanalysis: Current Practice and Beyond
AbstractNovel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield additional molecular diagnoses through the reanalysis of exome sequencing data. Collaborations between clinical laboratories, ordering physicians, and researchers are also driving factors that can contribute to these new insights. Automation in ongoing natural history collection, evolving phenotype updates, advancements in processing next-generation sequencing data, and up-to-date variant-gene-disease databases are increasingly needed for systematic exome reanalysis. Here, we review so...
Source: Molecular Diagnosis and Therapy - July 20, 2021 Category: Molecular Biology Source Type: research
The Opportunities and Challenges of Molecular Tagging Next-Generation Sequencing in Liquid Biopsy
AbstractLiquid biopsy (LB) is a promising tool that is rapidly evolving as a standard of care in early and advanced stages of cancer settings. Next-generation sequencing (NGS) methods have become essential in molecular diagnostics and clinical laboratories dealing with LB analytes, i.e., cell-free DNA and RNA. The sensitivity and high-throughput capacity of NGS enable us to overcome technical issues that are mainly attributable to low-abundance (below 1% mutated allelic frequency) tumour genetic material circulating within biological fluids. In this context, the introduction of unique molecular identifiers (UMIs), also kno...
Source: Molecular Diagnosis and Therapy - July 5, 2021 Category: Molecular Biology Source Type: research
A Prospective Evaluation of the Analytical Performance of GENECUBE ® HQ SARS-CoV-2 and GENECUBE® FLU A/B
ConclusionThe GENECUBE® HQ SARS-CoV-2 and GENECUBE® FLU A/B demonstrated sufficient analytical performance to detect SARS-CoV-2 and influenza virus A/B. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 1, 2021 Category: Molecular Biology Source Type: research
Prognostic Biomarker-Based Identification of Drugs for Managing the Treatment of Endometrial Cancer
ConclusionWe identified potential immunotherapeutic agents based on prognostic gene signature: hexamethonium bromide and isoflupredone. Several novel candidate drugs were suggested, including human interferon- α-2b, paclitaxel, imiquimod, MESO-DAP1, and mifamurtide. These biomolecules and repurposed drugs may be utilised for prognosis and treatment for better survival. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 22, 2021 Category: Molecular Biology Source Type: research
Camelid Single-Domain Antibodies for the Development of Potent Diagnosis Platforms
AbstractThe distinct biophysical and pharmaceutical properties of camelid single-domain antibodies, referred to as VHHs or nanobodies, are associated with their nanometric dimensions, elevated stability, and antigen recognition capacity. These biomolecules can circumvent a number of diagnostic system limitations, especially those related to the size and stability of conventional immunoglobulins currently used in enzyme-linked immunosorbent assays and point-of-care, electrochemical, and imaging assays. In these formats, VHHs are directionally conjugated to different molecules, such as metallic nanoparticles, small peptides,...
Source: Molecular Diagnosis and Therapy - June 19, 2021 Category: Molecular Biology Source Type: research
Detecting ALK Rearrangement with RT-PCR: A Reliable Approach Compared with Next-Generation Sequencing in Patients with NSCLC
ConclusionsCompared with NGS, RT-PCR appears to be a reliable method of detectingEML4-ALK fusion in patients with NSCLC. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 16, 2021 Category: Molecular Biology Source Type: research
Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms
ConclusionWell-established oncogenic alterations were accurately classified as pathogenic. Although there is no defined benchmark for the remaining variants, drawing from two existing guidelines enabled the creation of a modified curation process for variant interpretation that emphasizes systematic review of relevant evidence. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 14, 2021 Category: Molecular Biology Source Type: research
Recent Insights on Genetic Testing in Primary Prostate Cancer
AbstractProstate cancer (PCa) is one of the most common cancers in developed countries. The results of large trials indicate that the proportion of PCa attributable to hereditary factors is as high as 15%, highlighting the importance of genetic testing. Despite improved understanding of the prevalence of pathogenic variants among men with PCa, it remains unclear which men will most benefit from genetic testing. In this review, we summarize recent evidence on genetic testing in primary PCa and its impact on routine clinical practice. We outline current guideline recommendations on genetic testing, most importantly, for muta...
Source: Molecular Diagnosis and Therapy - June 12, 2021 Category: Molecular Biology Source Type: research
IDH Inhibitors and Beyond: The Cornerstone of Targeted Glioma Treatment
AbstractDiffuse low-grade gliomas account for approximately 20% of all primary brain tumors, they arise from glial cells and show infiltrative growth without histological features of malignancy. Mutations of theIDH1 andIDH2 genes constitute a reliable molecular signature of low-grade gliomas and are the earliest driver mutations occurring during gliomagenesis, representing a relevant biomarker with diagnostic, prognostic, and predictive value.IDH mutations induce a neomorphic enzyme that converts α-ketoglutarate to the oncometabolite D-2-hydroxyglutarate, which leads to widespread effects on cellular epigenetics and metab...
Source: Molecular Diagnosis and Therapy - June 7, 2021 Category: Molecular Biology Source Type: research
Correction to: Current Approach to Successful Liberation from Renal Replacement Therapy in Critically Ill Patients with Severe Acute Kidney Injury: The Quest for Biomarkers Continues
A correction to this paper has been published: https://doi.org/10.1007/s40291-021-00536-4 (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 3, 2021 Category: Molecular Biology Source Type: research
Proteomic Alterations in Salivary Exosomes Derived from Human Papillomavirus-Driven Oropharyngeal Cancer
ConclusionOur data demonstrate the potential diagnostic value of HPV16 DNA and glycolytic enzymes in salivary exosomes in discriminating healthy controls from HPV-driven OPC patients, thereby opening new avenues in the future for clinical translation studies. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 2, 2021 Category: Molecular Biology Source Type: research
Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?
AbstractCirculating cell-free DNA (ccfDNA) has emerged as a promising diagnostic tool in oncology. Identification of tumour-derived ccfDNA (i.e. circulating tumour DNA [ctDNA]) provides non-invasive access to a malignancy ’s molecular landscape to diagnose, inform therapeutic strategies, and monitor treatment efficacy. Current applications of ccfDNA to detect somatic mutations, however, have been largely constrained to tumour-informed searches and identification of common mutations because of the interaction betwee n ctDNA signal and next-generation sequencing (NGS) noise. Specifically, the low allele frequency of ctDNA ...
Source: Molecular Diagnosis and Therapy - May 20, 2021 Category: Molecular Biology Source Type: research
A Prospective Evaluation of the Analytical Performance of GENECUBE ® HQ SARS-CoV-2 and GENECUBE ® FLU A/B
ConclusionThe GENECUBE® HQ SARS-CoV-2 and GENECUBE® FLU A/B demonstrated sufficient analytical performance to detect SARS-CoV-2 and influenza virus A/B. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 18, 2021 Category: Molecular Biology Source Type: research
The Potential Use of Peripheral Blood Mononuclear Cells as Biomarkers for Treatment Response and Outcome Prediction in Psychiatry: A Systematic Review
ConclusionsWe conclude that, although inherent limitations to and heterogeneity in study designs in combination with the scarce number of original studies hamper unambiguous identification, several PBMC characteristics —mostly related to inflammatory pathways and cell viability—indeed show promise towards establishment as clinically relevant treatment biomarkers. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 12, 2021 Category: Molecular Biology Source Type: research
Luminal Breast Cancer: Risk of Recurrence and Tumor-Associated Immune Suppression
AbstractHormone-receptor positive (HR+) breast cancer (BC) (including the luminal A and the luminal B subtypes) is the most common type of tumor in women diagnosed with early-stage BC (EBC). It represents a highly heterogeneous subgroup that is characterized by different risks of relapse. The aim of this review is to discuss the possible role played by the immune response in predicting this risk, along with the most common clinical and pathological factors and molecular tools that have been developed and are already in use. As opposed to what has previously been observed in the most aggressive human epidermal growth factor...
Source: Molecular Diagnosis and Therapy - May 11, 2021 Category: Molecular Biology Source Type: research
