Pretreatment Tumor DNA Sequencing of KIT and PDGFRA in Endosonography-Guided Biopsies Optimizes the Preoperative Management of Gastrointestinal Stromal Tumors
ConclusionsPretreatment endosonography-guided biopsy sampling followed by immediate tumor DNA sequencing ofKIT andPDGFRA is highly accurate and valuable in guiding neoadjuvant TKI therapy in GIST. This approach minimizes maltreatment with inappropriate regimens and leads to improved tumor size reduction before surgery. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 1, 2020 Category: Molecular Biology Source Type: research
Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors
ConclusionIn a break from purely in silico approaches, we propose a simple and rapid pretherapeutic functional analysis of somaticBRCA1 variants potentially involved in splicing alterations. This approach will allow more ovarian cancer patients to benefit from new therapies targeting PARP. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 1, 2020 Category: Molecular Biology Source Type: research
Urinary Exosomal MicroRNAs as Potential Non-invasive Biomarkers in Breast Cancer Detection
DiscussionUrine-based BC diagnosis may be achieved through the analysis of distinct microRNA panels with proven biomarker abilities. Subject to further validation, the implementation of urinary BC detection in routine screening offers a promising non-invasive alternative in women ’s healthcare. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 27, 2020 Category: Molecular Biology Source Type: research
Integrin ανβ 6 Protein Expression and Prognosis in Solid Tumors: A Meta-Analysis
ConclusionsHigh expression ofανβ6 integrins is associated with adverse survival outcome in several tumors. Prospective studies evaluating the prognostic impact ofανβ6 integrin and its role as a therapeutic target are warranted. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 24, 2020 Category: Molecular Biology Source Type: research
Emergence of Circulating MicroRNAs in Breast Cancer as Diagnostic and Therapeutic Efficacy Biomarkers
AbstractBreast cancer is the second most common cause of deaths reported in women worldwide, and therefore there is a need to identify breast cancer patients at an early stage as timely diagnosis would help in effective management and appropriate monitoring of patients. Nevertheless, it is challenging to achieve these goals due to the lack of a specific biomarker for early detection and monitoring in breast cancer. Recently, microRNAs (miRNAs) have emerged as master regulators of the molecular pathways highlighted in different tumors leading to progression in malignancies. With the rapid advancements in molecular resear...
Source: Molecular Diagnosis and Therapy - February 16, 2020 Category: Molecular Biology Source Type: research
Correction to: Liquid Biopsy Applications in the Clinic
In the original publication of the article, the name of the fourth author, which previously read"Howard Chan ”, should read as"Howard Chang". The original article has been updated. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 16, 2020 Category: Molecular Biology Source Type: research
Hemolysis and Fetal Fraction in Cell-Free DNA Blood Collection Tubes for Noninvasive Prenatal Testing
ConclusionHemolysis in maternal blood samples collected in specialized cfDNA tubes does not correlate with a decrease in fetal fraction; therefore, it should not be a cause for rejection of samples submitted for prenatal cfDNA testing. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 12, 2020 Category: Molecular Biology Source Type: research
Identifying Biomarkers in Lymph Node Metastases of Esophageal Adenocarcinoma for Tumor-Targeted Imaging
ConclusionsHigh expression rates and correlation between LNM in EAC combined with low expression rates in healthy lymph nodes and esophagus tissues were observed for EpCAM and CEA, meaning these are promising targets for tumor-targeted imaging approaches for lymph nodes in patients with EAC. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 10, 2020 Category: Molecular Biology Source Type: research
Prognostic Value of MicroRNAs in Stage II Colorectal Cancer Patients: A Systematic Review and Meta-Analysis
ConclusionMicroRNAs play a significant role in determining prognosis in stage II CRC patients, with upregulation of miR21, miR215, miR143-5p and miR106a, in particular, portending a worse prognosis. These miRNAs could be considered for further evaluation as biomarkers of prognosis and to guide the decision to administer adjuvant chemotherapy. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 3, 2020 Category: Molecular Biology Source Type: research
The Future of In Utero Gene Therapy
AbstractSignificant advances in the safety and efficacy of gene therapy have sparked a new frontier in therapeutics for genetic diseases as evidenced by the greater than 700 active gene therapy investigational new drug applications reported by the NIH and the US Food and Drug Association. Although postnatal gene therapy trials are encouraging, limitations to effective therapy including an immune barrier and initiation of treatment after disease onset can exist. Advances in prenatal diagnostics provide hope that many genetic abnormalities will be able to be diagnosed before birth. Prenatal gene therapy has the potential to ...
Source: Molecular Diagnosis and Therapy - February 3, 2020 Category: Molecular Biology Source Type: research
Liquid Biopsy Applications in the Clinic
AbstractThe global liquid biopsy industry is expected to exceed $US5 billion by 2023. One application of liquid biopsy technology is the diagnosis of disease using biomarkers found in blood, urine, stool, saliva, and other biological samples from patients. These biomarkers could be DNA, RNA, protein, or even a cell. More recently, the use of cell-free DNA from plasma is emerging as an important minimally invasive tool for clinical diagnosis. The development of technology has increased the diversity of its application. Here, we discuss how liquid biopsies have been used in the clinic, and how personalized medicine are likel...
Source: Molecular Diagnosis and Therapy - January 8, 2020 Category: Molecular Biology Source Type: research
Clinical Utility of Next-Generation Sequencing in Acute Myeloid Leukemia
AbstractAcute myeloid leukemia (AML) is a genetically heterogeneous disease that, even with current advancements in therapy, continues to have a poor prognosis. Recurrent somatic mutations have been identified in a core set of pathogenic genes includingFLT3 (25 –30% prevalence),NPM1 (25 –30%),DNMT3A (25 –30%),IDH1/2 (5 –15%), andTET2 (5 –15%), with direct diagnostic, prognostic, and targeted therapeutic implications. Advances in the understanding of the complex mechanisms of AML leukemogenesis have led to the development and recent US Food and Drug Administration (FDA) approval of several targeted therapies: mido...
Source: Molecular Diagnosis and Therapy - December 16, 2019 Category: Molecular Biology Source Type: research
Specialized Blood Collection Tubes for Liquid Biopsy: Improving the Pre-analytical Conditions
ConclusionsThe choice between these specialized BCTs is less vital when they are processed correctly within a few days. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 13, 2019 Category: Molecular Biology Source Type: research
Clinical Features and Genetic Polymorphism in Chinese Patients with Erythrodermic Psoriasis in a Single Dermatologic Clinic
ConclusionsThere are HLA differences in Chinese patients with EP compared with patients with PV. The incidence of psoriatic arthritis is also higher. The implications of the above findings await further investigation. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 8, 2019 Category: Molecular Biology Source Type: research
Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran
AbstractIn November 2019 givosiran became the second small interfering RNA (siRNA)-based drug to receive US Food and Drug Administration (FDA) approval, it has been developed for the treatment of acute intermittent porphyria (AIP), a disorder characterized by life-threatening acute neurovisceral attacks. The porphyrias are a group of disorders in which enzymatic deficiencies in heme production lead to toxic accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are involved in the neurovisceral attacks. Givosiran acts as a conventional siRNA to trigger RNA interference (RNAi) -mediated gene sile...
Source: Molecular Diagnosis and Therapy - December 1, 2019 Category: Molecular Biology Source Type: research
