[Lynch syndrome, Muir Torre variant: 2 cases]

Area of Science:

• Oncology
• Genetics
• Dermatology

Background:

• Lynch syndrome (LS) is an inherited disorder increasing cancer risk, caused by mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2).
• Muir-Torre syndrome (MTS) is a subtype of LS characterized by a predisposition to sebaceous gland tumors and keratoacanthomas.
• Germline mutations in DNA mismatch repair genes are the underlying cause for both LS and MTS.

Observation:

• This report describes two patients diagnosed with Muir-Torre syndrome.
• Both patients presented with multiple LS-related cancers and distinct skin lesions.
• Diagnostic evaluations included family history assessment, microsatellite instability testing, and immunohistochemistry analysis.

Findings:

• The study identified two cases of Muir-Torre syndrome, a variant of Lynch syndrome.
• Patients exhibited a significant personal and family history of various cancers.
• Characteristic skin manifestations, including sebaceous neoplasms and keratoacanthomas, were observed.

Implications:

• These cases highlight the importance of recognizing MTS in patients with specific skin tumors and a history of LS-related cancers.
• Early diagnosis and genetic counseling are crucial for managing cancer risks in individuals with MTS.
• Understanding the genetic basis of MTS aids in risk stratification and personalized cancer surveillance strategies.