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Myocarditis II: Clinical Features and Diagnostic Tests01:27

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Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
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Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
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Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

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Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
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Mitral regurgitation (MR) is a valvular heart disorder in which the mitral valve fails to close tightly, allowing blood to leak backward into the heart. Understanding the clinical manifestations, assessment, diagnostic findings, and medical management of MR is crucial to effectively managing affected patients.Clinical Manifestations of Mitral RegurgitationMitral regurgitation can be acute or chronic, each presenting differently and requiring different approaches:1. Acute Mitral...
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Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical

Richard Gallon1, Harsh Sheth1,2, Christine Hayes1

  • 1Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

Human Mutation
|September 1, 2019
PubMed
Summary

A new microsatellite instability (MSI) testing method for colorectal cancers (CRCs) accurately identifies Lynch syndrome (LS) and predicts immunotherapy response. This robust, scalable assay is suitable for clinical diagnostics.

Keywords:
colorectal cancerhigh-throughput diagnosticsmicrosatellite instabilitymismatch repair deficiencysingle-molecule molecular inversion probes

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Microsatellite instability (MSI) testing is crucial for colorectal cancer (CRC) diagnosis, screening for Lynch syndrome (LS), and predicting immunotherapy response.
  • Existing MSI testing methods require validation for clinical utility and scalability.

Purpose of the Study:

  • To develop and validate a novel single-molecule molecular inversion probe and sequencing-based assay for MSI testing in CRCs.
  • To assess the assay's accuracy, robustness, and suitability for clinical diagnostics, including streamlined Lynch syndrome testing.

Main Methods:

  • Development of a multiplex assay amplifying 24 microsatellites.
  • Training a classifier on 98 CRCs and validation in three independent cohorts (220 CRCs).
  • Identification of a 6-marker subset with equal accuracy and assessment of detection limits and BRAF mutation analysis.

Main Results:

  • The assay achieved 100% concordance with the Promega MSI Analysis System v1.2 across independent cohorts.
  • A 6-marker subset demonstrated equal accuracy to the 24-marker panel.
  • The assay detected as low as 3% high MSI DNA and required minimal template molecules for accurate sequencing, with correct identification of BRAF c.1799T>A variants.

Conclusions:

  • The developed MSI assay is a cheap, robust, automatable, and scalable molecular diagnostic tool for clinical cancer diagnostics.
  • The assay provides accurate MSI classification, aids in Lynch syndrome screening, and is suitable for routine clinical use.
  • Internal quality controls enhance the assay's reliability for clinical applications.