A Window of Opportunity for Newborn Screening
AbstractMolecular diagnostics and therapies play a central role in an era of precision medicine, with the promise of more accurate diagnoses and more effective treatments. Universal newborn screening (NBS) identifies those health conditions that must be treated in early life and before clinical symptoms become apparent, to maximize effectiveness, prevent morbidity, and reduce or eliminate mortality. However, enthusiasm about NBS as the logical platform for early identification is tempered by the realization that NBS under public health authority exists in a complex ecology in which technology and medicine intersect with po...
Source: Molecular Diagnosis and Therapy - May 4, 2022 Category: Molecular Biology Source Type: research
CAH-X Syndrome: Genetic and Clinical Profile
AbstractThe term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the hypermobility type of Ehlers Danlos syndrome. The genetic defect is due to the monoallelic presence of aCYP21A2 deletion extending into the gene encoding tenascin X (TNXB), a connective tissue extracellular matrix protein. The result is a chimericTNXA/TNXB gene causing tenascin-X haploinsufficiency. The prevalence of CAH-X was estimated to be around 14 –15% in large cohorts of patients with 21-hydroxylase deficiency. However, population studies are still scarce and the clinical pict...
Source: Molecular Diagnosis and Therapy - April 27, 2022 Category: Molecular Biology Source Type: research
Proclarix, A New Biomarker for the Diagnosis of Clinically Significant Prostate Cancer: A Systematic Review
ConclusionInitial studies have shown the potential benefit of Proclarix in patients with specific characteristics. Future studies are needed to verify the clinical usefulness of Proclarix in men with suspected PCa before and after mpMRI. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 26, 2022 Category: Molecular Biology Source Type: research
Smart PROTACs Enable Controllable Protein Degradation for Precision Cancer Therapy
AbstractProteolysis-targeting chimeras (PROTACs) are heterobifunctional chemicals that degrade proteins at the post-translational level, which represent an emerging therapeutic modality to fight cancer and other diseases. Although several PROTACs have now entered clinical trials, potential off-tissue side effects have resulted from nonspecific accumulation at non-cancerous sites after systemic administration, and this remains a major challenge. To this end, in the past 3 years, activatable PROTACs whose activity can only be launched on demand have gained tremendous momentum. In this review, we provide an overview of these ...
Source: Molecular Diagnosis and Therapy - April 26, 2022 Category: Molecular Biology Source Type: research
EasyNAT MP Assay: A Simple, Rapid, and Low-Cost Method to Detect Mycoplasma pneumoniae Using Cross-Priming Amplification Technology
ConclusionEasyNAT MP is suitable as an initial test for MP diagnosis due to its simplicity, low turnaround time, and high sensitivity and specificity. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 16, 2022 Category: Molecular Biology Source Type: research
Clinical Performance of the cobas Liat SARS-CoV-2 & amp; Influenza A/B Assay in Nasal Samples
ConclusionThe Liat assay showed high concordance with other molecular assays in nasal samples. Some discordance occurred in samples with Ct values> 30 on the Liat assay. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 7, 2022 Category: Molecular Biology Source Type: research
Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies
ConclusionsOur findings demonstrate clinical utility and feasibility of integrating a NGS-based gene mutation and fusion testing assay as a frontline diagnostic test in a large reported cohort of patients with suspected myeloid malignancy, in a clinical laboratory setting. Overlap with cytogenetic test results provides opportunity for testing reduction and streamlining. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 5, 2022 Category: Molecular Biology Source Type: research
Hyperactivating p53 in Human Papillomavirus-Driven Cancers: A Potential Therapeutic Intervention
AbstractDespite a vaccine being available, human papillomavirus virus (HPV)-driven cancers remain the ninth most prevalent cancers globally. Current therapies have significant drawbacks and often still lead to poor prognosis and underwhelming survival rates. With gene therapy becoming more available in the clinic, it poses a new front for therapeutic development. A characteristic of HPV-driven cancers is the ability to encode oncoproteins that aberrate normal p53 function without mutating this tumour-suppressor gene. The HPV E6 oncoprotein degrades p53 to allow the HPV-driven carcinogenic process to proceed. This review ai...
Source: Molecular Diagnosis and Therapy - April 5, 2022 Category: Molecular Biology Source Type: research
Concordance Study of a 520-Gene Next-Generation Sequencing-Based Genomic Profiling Assay of Tissue and Plasma Samples
ConclusionPaired tumor and blood samples from a large cohort of patients spanning 20 tumor types demonstrated that the OncoScreen Plus is a reliable pan-cancer panel for the accurate detection of somatic variants and genomic signatures that could guide individualized treatment strategies to improve the care of patients with advanced cancer. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 19, 2022 Category: Molecular Biology Source Type: research
MET-Targeted Therapies and Clinical Outcomes: A Systematic Literature Review
ConclusionThis systematic literature review provides an overview of the literature available in Embase and PubMed regardingMET-targeted therapies.MET-selective tyrosine kinase inhibitors (TKIs) (capmatinib, tepotinib, and savolitinib) may become a new standard of care in NSCLC, specifically withMET exon 14 skipping mutations. A combination ofMET TKIs with epidermal growth factor receptor (EGFR) TKIs (osimertinib + savolitinib, tepotinib + gefitinib) may be a potential solution forMET-driven EGFR TKI resistance. Further,MET alteration (MET amplification/overexpression) may be an actionable target in gastric cancer and papil...
Source: Molecular Diagnosis and Therapy - March 10, 2022 Category: Molecular Biology Source Type: research
Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review
ConclusionIn addition toBRAF,NRAS andKIT genes commonly studied, our systematic review identified significantly mutated genes that have already been associated (e.g.,TSC1, mTOR, POLE orATRX) or could be associated with (future) targeted therapies.PROSPERO ID: CRD42020185552 (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 23, 2022 Category: Molecular Biology Source Type: research
Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases
ConclusionsThe selection of fetal cells by a micromanipulator and nested polymerase chain reaction analysis made celomatic fluid suitable for early prenatal diagnosis of monogenic disorders even in the presence of high maternal contamination and few fetal cells. The procedure reported in this study provides the opportunity for the use of celomic fluid sampled by celocentesis as an alternative to chorionic villi sampling and amniocentesis, to allow invasive prenatal diagnosis at a very early stage of pregnancy. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 17, 2022 Category: Molecular Biology Source Type: research
The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus
AbstractThe feasibility to unravel genetic and genomic signatures for disorders affecting the auditory system has accelerated since arriving in the post-genomics era roughly 20 years ago. Newly emerging studies have provided initial landmarks signaling heritability and thus, a genetic link, to severe tinnitus. Tinnitus, the phantom perception of ringing in the ears, is experienced by at least 15% of the adult population and can be extremely disabling. Despite its ubiquity, there is no cure for tinnitus and modalities offering relief are often of limited success. Because tinnitus is frequently reported in patients with acqu...
Source: Molecular Diagnosis and Therapy - February 15, 2022 Category: Molecular Biology Source Type: research
The Value of Pharmacogenetics to Reduce Drug-Related Toxicity in Cancer Patients
AbstractMany anticancer drugs cause adverse drug reactions (ADRs) that negatively impact safety and reduce quality of life. The typical narrow therapeutic range and exposure-response relationships described for anticancer drugs make precision dosing critical to ensure safe and effective drug exposure. Germline mutations in pharmacogenes contribute to inter-patient variability in pharmacokinetics and pharmacodynamics of anticancer drugs. Patients carrying reduced-activity or loss-of-function alleles are at increased risk for ADRs. Pretreatment genotyping offers a proactive approach to identify these high-risk patients, admi...
Source: Molecular Diagnosis and Therapy - February 3, 2022 Category: Molecular Biology Source Type: research
Prognostic Value of Programmed Death Ligand-1 Expression in Solid Tumors Irrespective of Immunotherapy Exposure: A Systematic Review and Meta-Analysis
ConclusionsHigh expression of PD-L1 is associated with worse survival in solid tumors albeit with significant heterogeneity among tumor types. The effect is consistent in early-stage and metastatic disease and is not sensitive to method of PD-L1 quantification. These data can provide additional information for the counseling of patients with cancer about prognosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 1, 2022 Category: Molecular Biology Source Type: research
