Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.

MMR deficiency (IHC) in benign and atypical ocular sebaceous neoplasms — implications for Lynch/Muir-Torre screening

14 benign or atypical ocular sebaceous neoplasms (sebaceous adenomas n=6, atypical sebaceous neoplasms n=3, sebaceomas n=5) were analyzed by MMR IHC. MMR deficiencies suggestive of Muir-Torre syndrome are identified even in benign lesions, suggesting that non-malignant forms also warrant Lynch syndrome screening. Classification and nomenclature of these atypical lesions are also discussed.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Muir-Torre syndrome is the cutaneous-ocular form of Lynch syndrome, often diagnosed late because dermatologists and ophthalmologists do not systematically test MMR status in benign sebaceous lesions. This study reminds us that even a benign ocular sebaceous adenoma can be the entry signal for oncogenetics referral.

Clinical impact: 2/3 · Evidence strength: 1/3 · Novelty: 2/2 · Sample size: 0/1 · Publication status: 1/1 → Total: 6/10