AI Article Synopsis
- - Lynch syndrome is a hereditary condition that elevates the risk for various cancers, including both internal tumors and specific skin tumors like keratoacanthomas and sebaceous tumors.
- - Diagnosing Lynch syndrome can be complicated, especially in cases of mosaicism where affected individuals may not show a clear genetic variant, which is rare in medical literature.
- - This report highlights a unique case where keratoacanthoma testing via immunohistochemistry led to the diagnosis of mosaic Lynch syndrome, emphasizing the need to consider mosaicism in strong clinical cases even when genetic tests are inconclusive.
Article Abstract
Lynch syndrome is an inherited condition, which increases the risk of numerous visceral malignancies and cutaneous tumors such as keratoacanthomas and sebaceous tumors. It is typically identified by immunohistochemistry of tissue taken from tumors or through genetic testing with next-generation sequencing. Diagnosing Lynch syndrome becomes more complex when the individual is mosaic for the relevant pathogenic variant. There are very few cases of this reported in the medical literature. It is even more unusual for the diagnosis to be made based on testing of a keratoacanthoma lesion. We report a case where immunohistochemistry of a keratoacanthoma helped make a diagnosis of mosaic Lynch syndrome. We will explore how mosaicism should be considered when a phenotype is strong, even if next-generation sequencing reports no pathogenic or likely pathogenic variant and how lesions such as keratoacanthomas can have a role in the early detection and treatment of future malignancies.
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| http://dx.doi.org/10.1097/DAD.0000000000002612 | DOI Listing |
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