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Identifying Lynch syndrome: we are all responsible.
Julian A Sanchez1, Jon D Vogel, Matthew F Kalady
1Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA.
Diseases of the Colon and Rectum
|August 7, 2008
Summary
Pathology findings of microsatellite instability in colorectal tumors often fail to trigger Lynch syndrome evaluation. Improved clinical assessment is crucial to avoid missed diagnoses of this hereditary cancer syndrome.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Lynch syndrome is a hereditary cancer predisposition.
- Amsterdam criteria and Bethesda guidelines aid in Lynch syndrome identification.
- Pathology findings like microsatellite instability (MSI) are key indicators.
Purpose of the Study:
- To evaluate the impact of MSI pathology findings on Lynch syndrome evaluation by clinicians.
- To assess the effectiveness of current diagnostic criteria in identifying Lynch syndrome patients.
Main Methods:
- Identified 51 patients with microsatellite unstable colorectal tumors.
- Reviewed clinical information and management recommendations.
- Determined MLH1 methylation status.
Main Results:
- Only 25% of patients with MSI tumors were appropriately referred for Lynch syndrome testing.
- 73% of patients with MSI tumors were not detected, leading to no further workup.
- Two patients met Amsterdam criteria but potentially had missed Lynch syndrome diagnoses.
Conclusions:
- MSI histology is a primary driver for Lynch syndrome evaluation, but not always sufficient.
- Histopathology alone cannot identify all potential Lynch syndrome cases.
- Inadequate familial risk assessment and testing omissions can lead to missed Lynch syndrome diagnoses.
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