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N_LyST: a simple and rapid screening test for Lynch syndrome
Susanti Susanti1,2,3, Wakkas Fadhil1,3, Henry Okuchukwu Ebili1,3,4
1Molecular Pathology Group, Unit of Academic Molecular Pathology, Division of Cancer and Stem Cell, School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK.
Journal of Clinical Pathology
|February 24, 2018
Summary
A new screening panel, the Nottingham Lynch Syndrome Test (N_LyST), efficiently detects Lynch syndrome by analyzing microsatellite instability (MSI), MLH1 promoter methylation, and BRAF mutations in a single test. This method is quick, simple, and cost-effective for Lynch syndrome screening.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- Lynch syndrome is a hereditary cancer predisposition syndrome.
- Accurate and efficient screening methods are crucial for early detection and management.
- Current screening methods can be complex and time-consuming.
Purpose of the Study:
- To develop a single, closed-tube screening panel for Lynch syndrome.
- To integrate tests for microsatellite instability (MSI), MLH1 promoter methylation, and BRAF mutations.
- To create a rapid, simple, and cost-effective screening tool.
Main Methods:
- Developed a panel using PCR and high-resolution melting analysis.
- Included five mononucleotide markers for MSI testing.
- Designed primers for MLH1 promoter methylation analysis and BRAF mutation detection (codon 600).
- Tested on two independent cohorts (Nottingham and Edinburgh) comprising 187 individuals.
Main Results:
- The panel accurately characterized all 187 cases for MSI.
- MLH1 promoter methylation analysis showed high concordance with MSI status (41/44 MSI cases methylated).
- BRAF mutations were detected in 61% of MSI cases and 11% of MSS cases.
- The integrated panel successfully screened 12 cases, correctly identifying MSS, MSI/non-LS, and MSI/possible LS phenotypes.
Conclusions:
- The Nottingham Lynch Syndrome Test (N_LyST) is a novel, integrated screening panel.
- N_LyST offers a quick, simple, and inexpensive method for Lynch syndrome screening.
- This approach facilitates efficient identification of individuals requiring further Lynch syndrome evaluation.
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