Muir-Torre Syndrome: Association of Sebaceous Gland Neoplasms With Colorectal Cancer; The Need For Aggressive Colonoscopic Surveillance

Abstract

Purpose: Muir-Torre syndrome (MTS) is a rare autosomal dominant disease consisting of sebaceous gland neoplasms associated with internal malignancies, especially colorectal cancer. Published studies show sebaceous neoplasms preceded or were concurrent with the visceral cancer diagnosis in 41% of patients. The purpose of our study is to assess significance of aggressive colonoscopy surveillance in patients identified with sebaceous gland neoplasms.Table: [1500]Methods: Retrospective review was performed at Unity Health System for the period between Jan 05 to Jun 07 to identify the patients who had positive sebaceous gland neoplasm proven by histopathology. Data collection included demographic characteristics, type of skin lesion, colonoscopy findings, any family history of gastrointestinal neoplasm, along with any further tumors in these patients. Results: Total 6 patients were identified to have sebaceous carcinoma, 2 patients with sebaceous adenoma and 1 patient with keratoacanthoma with sebaceous differentiation. Further data is tabulated as below. 5 out of total 9, i.e., 56% of the patients had significant positive findings on colonoscopy where further therapeutic intervention was needed. Out of above 5 patients, 2 patients who were found to have colorectal cancer were young, 2 patients had very large adenomatous polyps and 1 patient had multiple hyperplastic polyps. In 3 patients with non-significant colonoscopy findings, other malignancies like adenocarcinoma of breast, adenocarcinoma of lung and Non Hodgkin's lymphoma were noted. Conclusion: Sebaceous tumors (Sebaceous adenomas, sebaceous carcinomas and sebaceous epithelioms) and kerantoacanthomas with sebaceous differentiation may be the markers for MTS and recognition of these lesions warrants investigation for associated visceral malignancy, most commonly colorectal, but also uterine, upper GI tract, lung and bladder. Colorectal carcinoma being most common visceral malignancy associated with MTS (53% of cases), colonoscopic surveillance is mandatory at initial evaluation and at every one to three year intervals irrespective of age and gender. If MTS is positive, family members should also be screened for colorectal cancer starting from much younger age group.