How to Predict DNA Mismatch Repair Status: Location, Location, Location

Sebaceous neoplasms on the trunk and extremities are more likely to contain mismatch repair defects, which are associated with Muir-Torre syndrome and malignancy.

Sebaceous neoplasias, which can be cutaneous markers for Muir-Torre syndrome and internal malignancies, often exhibit DNA mismatch repair (MMR) defects. MMR proteins, encoded by MLH1, MSH2, MSH3, MSH6, PMS1, and PMS2 genes, detect single-base errors that occur during DNA replication, especially in repetitive DNA sequences. Defects in MMR protein expression are associated with the presence of microsatellite instability (MSI), which is often found in colorectal carcinomas and in gastric, endometrial, and skin tumors.

Investigators looked for MMR defects in sebaceous neoplasms and correlated their presence with histologic and clinical presentations. They retrospectively reviewed clinical charts and immunohistochemistry staining (for MLH1, MSH2,…

Reviewing Author

Angelica Selim, MD

Disclosures

Grant / Research support NIH/NCI, The Plastic Surgery Foundation

Angelica Selim, MD

Disclosures

Grant / Research support NIH/NCI, The Plastic Surgery Foundation

How to Predict DNA Mismatch Repair Status: Location, Location, Location

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Reviewing Author