Sebaceous Gland Tumors of Eyelids/Conjunctiva in the Muir-Torre Syndrome (MTS). A Clinico-Pathologic Study of Five Cases

Abstract

Abstract: : Purpose: To study sebaceous gland tumors of the eyelid and conjunctiva associated with Muir-Torre syndrome and to determine the role of immunohistochemical markers as a screening test in patients with MTS. Methods: Clinical findings and family history were reviewed from the records of five patients with MTS diagnosed in our laboratory. The lesions from all the patients were evaluated histopathologically. Additionally, immunohistochemical studies using an antibody to MSH2 (DNA mismatch repair gene) were performed from the paraffin-embedded sections of the tumors in two cases. Results: Four of the five patients were males with the mean age of 55 years (ranging from 41 to 76 years). Four of the five patients had gastrointestinal carcinoma and one of the patients had nasopharyngeal carcinoma. Histopathologically all the tumors were classified as sebaceous adenoma that exhibited a distinct lobular pattern with basaloid cells at the periphery of the lobules with central areas of sebaceous differentiation. Two of the lesions showed a peculiar hamartomatous appearance with tumor lobules merging with the overlying conjunctival epithelium. The internal malignancies in all the five patients preceded the development of the eyelid tumors. Immunohistochemical stains showed a lack of MSH2 expression in the tumor cells, which is highly consistent with MTS. Conclusions: Muir-Torre syndrome should be considered in patients who develop sebaceous tumors of the ocular adnexa. Immunohistochemistry for MSH2 is a useful diagnostic approach when screening sebaceous tumors of the lid/conjunctiva from patients suspected of MTS.

Keywords: tumors • eyelid • immunohistochemistry