Genetic Mutation Test Improves Definitive Diagnosis of Thyroid Nodules
|
By LabMedica International staff writers Posted on 03 Jun 2015 |
|
Image: Histopathology of thyroid colloid nodules displaying macrofollicles lined by flattened thyroid epithelial cells. The nodules are circumscribed and do not have a fibrous capsule (Photo courtesy of the University of Siena).
Image: The miRInform Thyroid test collection kit for the molecular diagnosis of thyroid cancer (Photo courtesy of Asuragen Inc.).
Cytopathology on ultrasound-guided fine needle aspiration biopsies has dramatically improved the clinical management of patients with solid thyroid nodules that are greater than one centimeter.
Molecular testing for oncogenic mutations or gene expression in fine-needle aspirations (FNA) from thyroid nodules with indeterminate cytology identified a subset of benign or malignant lesions with high predictive value.
Several scientists working at various institutions including Jersey Shore University Medical Center (Neptune City, NJ, USA) evaluated a novel diagnostic algorithm combining mutation detection and micro-ribonucleic acid (miRNA) expression to improve the diagnostic yield of molecular cytology. The teams tested 638 surgical specimens and preoperative FNAs for 17 validated gene alterations using a commercial thyroid test and with a 10-miRNA gene expression classifier generating positive (malignant) or negative (benign) results. Qualitative molecular results were compared to surgical histopathology to determine diagnostic performance and model clinical impact.
The miRInform Thyroid test (Asuragen Inc.; Austin, TX, USA) detected mutations in 69% of nodules with malignant outcome. Among mutation-negative specimens, miRNA testing correctly identified 64% of malignant cases and 98% of benign cases. The diagnostic sensitivity and specificity of the combined algorithm was 89% and 85%, respectively. At 32% cancer prevalence, 61% of the molecular results were benign with a negative predictive value of 94%. Independently of variations in cancer prevalence, the test increased the yield of true benign results by 65% relative to messenger (mRNA)-based gene expression classification and decreased the rate of avoidable diagnostic surgeries by 69%.
The authors including those from Asuragen, Inc., concluded that multiplatform testing for DNA, mRNA and miRNA can accurately classify benign and malignant thyroid nodules, increase the diagnostic yield of molecular cytology, and further improve the preoperative risk-based management of benign nodules. The study was published on May 12, 2015, in the Journal of Clinical Endocrinology & Metabolism.
Related Links:
Jersey Shore University Medical Center
Asuragen Inc.
Molecular testing for oncogenic mutations or gene expression in fine-needle aspirations (FNA) from thyroid nodules with indeterminate cytology identified a subset of benign or malignant lesions with high predictive value.
Several scientists working at various institutions including Jersey Shore University Medical Center (Neptune City, NJ, USA) evaluated a novel diagnostic algorithm combining mutation detection and micro-ribonucleic acid (miRNA) expression to improve the diagnostic yield of molecular cytology. The teams tested 638 surgical specimens and preoperative FNAs for 17 validated gene alterations using a commercial thyroid test and with a 10-miRNA gene expression classifier generating positive (malignant) or negative (benign) results. Qualitative molecular results were compared to surgical histopathology to determine diagnostic performance and model clinical impact.
The miRInform Thyroid test (Asuragen Inc.; Austin, TX, USA) detected mutations in 69% of nodules with malignant outcome. Among mutation-negative specimens, miRNA testing correctly identified 64% of malignant cases and 98% of benign cases. The diagnostic sensitivity and specificity of the combined algorithm was 89% and 85%, respectively. At 32% cancer prevalence, 61% of the molecular results were benign with a negative predictive value of 94%. Independently of variations in cancer prevalence, the test increased the yield of true benign results by 65% relative to messenger (mRNA)-based gene expression classification and decreased the rate of avoidable diagnostic surgeries by 69%.
The authors including those from Asuragen, Inc., concluded that multiplatform testing for DNA, mRNA and miRNA can accurately classify benign and malignant thyroid nodules, increase the diagnostic yield of molecular cytology, and further improve the preoperative risk-based management of benign nodules. The study was published on May 12, 2015, in the Journal of Clinical Endocrinology & Metabolism.
Related Links:
Jersey Shore University Medical Center
Asuragen Inc.
Gold Member
Hematology Analyzer
Medonic M32B
ESR Analyzer
TEST1 2.0
Alcohol Testing Device
Dräger Alcotest 7000
Latest Molecular Diagnostics News
- Diagnostic Device Predicts Treatment Response for Brain Tumors Via Blood Test
- Blood Test Detects Early-Stage Cancers by Measuring Epigenetic Instability
- Two-in-One DNA Analysis Improves Diagnostic Accuracy While Saving Time and Costs
- “Lab-On-A-Disc” Device Paves Way for More Automated Liquid Biopsies
- New Tool Maps Chromosome Shifts in Cancer Cells to Predict Tumor Evolution
- Blood Test Identifies Inflammatory Breast Cancer Patients at Increased Risk of Brain Metastasis
- Newly-Identified Parkinson’s Biomarkers to Enable Early Diagnosis Via Blood Tests
- New Blood Test Could Detect Pancreatic Cancer at More Treatable Stage
- Liquid Biopsy Could Replace Surgical Biopsy for Diagnosing Primary Central Nervous Lymphoma
- New Tool Reveals Hidden Metabolic Weakness in Blood Cancers
- World's First Blood Test Distinguishes Between Benign and Cancerous Lung Nodules
- Rapid Test Uses Mobile Phone to Identify Severe Imported Malaria Within Minutes
- Gut Microbiome Signatures Predict Long-Term Outcomes in Acute Pancreatitis
- Blood Test Promises Faster Answers for Deadly Fungal Infections
- Blood Test Could Detect Infection Exposure History
- Urine-Based MRD Test Tracks Response to Bladder Cancer Surgery
Channels
Clinical Chemistry
view channel
New PSA-Based Prognostic Model Improves Prostate Cancer Risk Assessment
Prostate cancer is the second-leading cause of cancer death among American men, and about one in eight will be diagnosed in their lifetime. Screening relies on blood levels of prostate-specific antigen... Read more
Extracellular Vesicles Linked to Heart Failure Risk in CKD Patients
Chronic kidney disease (CKD) affects more than 1 in 7 Americans and is strongly associated with cardiovascular complications, which account for more than half of deaths among people with CKD.... Read more
Hematology
view channel
New Guidelines Aim to Improve AL Amyloidosis Diagnosis
Light chain (AL) amyloidosis is a rare, life-threatening bone marrow disorder in which abnormal amyloid proteins accumulate in organs. Approximately 3,260 people in the United States are diagnosed... Read more
Fast and Easy Test Could Revolutionize Blood Transfusions
Blood transfusions are a cornerstone of modern medicine, yet red blood cells can deteriorate quietly while sitting in cold storage for weeks. Although blood units have a fixed expiration date, cells from... Read more
Automated Hemostasis System Helps Labs of All Sizes Optimize Workflow
High-volume hemostasis sections must sustain rapid turnaround while managing reruns and reflex testing. Manual tube handling and preanalytical checks can strain staff time and increase opportunities for error.... Read more
High-Sensitivity Blood Test Improves Assessment of Clotting Risk in Heart Disease Patients
Blood clotting is essential for preventing bleeding, but even small imbalances can lead to serious conditions such as thrombosis or dangerous hemorrhage. In cardiovascular disease, clinicians often struggle... Read moreImmunology
view channel
Blood Test Identifies Lung Cancer Patients Who Can Benefit from Immunotherapy Drug
Small cell lung cancer (SCLC) is an aggressive disease with limited treatment options, and even newly approved immunotherapies do not benefit all patients. While immunotherapy can extend survival for some,... Read more
Whole-Genome Sequencing Approach Identifies Cancer Patients Benefitting From PARP-Inhibitor Treatment
Targeted cancer therapies such as PARP inhibitors can be highly effective, but only for patients whose tumors carry specific DNA repair defects. Identifying these patients accurately remains challenging,... Read more
Ultrasensitive Liquid Biopsy Demonstrates Efficacy in Predicting Immunotherapy Response
Immunotherapy has transformed cancer treatment, but only a small proportion of patients experience lasting benefit, with response rates often remaining between 10% and 20%. Clinicians currently lack reliable... Read more
Microbiology
view channel
Comprehensive Review Identifies Gut Microbiome Signatures Associated With Alzheimer’s Disease
Alzheimer’s disease affects approximately 6.7 million people in the United States and nearly 50 million worldwide, yet early cognitive decline remains difficult to characterize. Increasing evidence suggests... Read more
AI-Powered Platform Enables Rapid Detection of Drug-Resistant C. Auris Pathogens
Infections caused by the pathogenic yeast Candida auris pose a significant threat to hospitalized patients, particularly those with weakened immune systems or those who have invasive medical devices.... Read more
Pathology
view channel
Engineered Yeast Cells Enable Rapid Testing of Cancer Immunotherapy
Developing new cancer immunotherapies is a slow, costly, and high-risk process, particularly for CAR T cell treatments that must precisely recognize cancer-specific antigens. Small differences in tumor... Read more
First-Of-Its-Kind Test Identifies Autism Risk at Birth
Autism spectrum disorder is treatable, and extensive research shows that early intervention can significantly improve cognitive, social, and behavioral outcomes. Yet in the United States, the average age... Read more
Technology
view channel
Robotic Technology Unveiled for Automated Diagnostic Blood Draws
Routine diagnostic blood collection is a high‑volume task that can strain staffing and introduce human‑dependent variability, with downstream implications for sample quality and patient experience.... Read more
ADLM Launches First-of-Its-Kind Data Science Program for Laboratory Medicine Professionals
Clinical laboratories generate billions of test results each year, creating a treasure trove of data with the potential to support more personalized testing, improve operational efficiency, and enhance patient care.... Read more
Aptamer Biosensor Technology to Transform Virus Detection
Rapid and reliable virus detection is essential for controlling outbreaks, from seasonal influenza to global pandemics such as COVID-19. Conventional diagnostic methods, including cell culture, antigen... Read more
AI Models Could Predict Pre-Eclampsia and Anemia Earlier Using Routine Blood Tests
Pre-eclampsia and anemia are major contributors to maternal and child mortality worldwide, together accounting for more than half a million deaths each year and leaving millions with long-term health complications.... Read moreIndustry
view channel
New Collaboration Brings Automated Mass Spectrometry to Routine Laboratory Testing
Mass spectrometry is a powerful analytical technique that identifies and quantifies molecules based on their mass and electrical charge. Its high selectivity, sensitivity, and accuracy make it indispensable... Read more
AI-Powered Cervical Cancer Test Set for Major Rollout in Latin America
Noul Co., a Korean company specializing in AI-based blood and cancer diagnostics, announced it will supply its intelligence (AI)-based miLab CER cervical cancer diagnostic solution to Mexico under a multi‑year... Read more
Diasorin and Fisher Scientific Enter into US Distribution Agreement for Molecular POC Platform
Diasorin (Saluggia, Italy) has entered into an exclusive distribution agreement with Fisher Scientific, part of Thermo Fisher Scientific (Waltham, MA, USA), for the LIAISON NES molecular point-of-care... Read more