Sebaceous neoplasms with mismatch repair protein expressions and the frequency of co-existing visceral tumors

• Published in: Journal of the American Academy of Dermatology Vol. 67; no. 6; pp. 1228 - 1234.e1
• Main Authors: Lee, Bonnie A., MD, Yu, Limin, MD, Ma, Linglei, MD, PhD, Lind, Anne C., MD, Lu, Dongsi, MD, PhD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01-12-2012; Elsevier
• Subjects: Abdominal Neoplasms - epidemiology; Abdominal Neoplasms - genetics; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Dermatology; DNA Mismatch Repair; Female; Humans; Male; Medical sciences; Middle Aged; mismatch repair; Muir-Torre syndrome; Neoplasms, Multiple Primary - epidemiology; Neoplasms, Multiple Primary - genetics; Prevalence; Sebaceous Gland Neoplasms - epidemiology; Sebaceous Gland Neoplasms - genetics; sebaceous neoplasms; Viscera; visceral malignancy; genitourinary; GI; carcinoembryonic antigen; IHC; MLH; mismatch repair; MTS; GU; Muir-Torre syndrome; gastrointestinal; MSH6; mutS homolog 6; MMR; MSH2; postmeiotic segregation increased 2; visceral malignancy; PMS2; immunohistochemistry; sebaceous neoplasms; CEA; mutL Homolog; mutS homolog 2; Tumor; Repair; Dermatology; Protein
• ISSN: 0190-9622; 1097-6787
• DOI: 10.1016/j.jaad.2012.03.020

Background Visceral malignancy has been associated with sebaceous neoplasms in patients with Muir-Torre syndrome. However, no large studies have been done to evaluate the frequency of visceral tumors in patients with sebaceous neoplasms and mismatch repair (MMR) protein expression of the sebaceous tumors. Objective We sought to determine the frequency of visceral tumors in patients with sebaceous neoplasms, MMR protein expression of the sebaceous tumors, and the related surveillance practices of physicians. Methods We identified 85 patients with sebaceous neoplasms. Relevant clinical information was obtained via chart review and database searches. MMR protein expression was examined by immunohistochemistry. Results Nineteen of the 85 patients had a total of 22 visceral malignancies, of which 41% were genitourinary in origin. Ten of the 17 patients (59%) with visceral malignancy had loss of MMR expression in their sebaceous neoplasms or somatic MMR mutation. Thirty patients had other findings such as colonic adenomas and polyps. Of the 23 patients who had a family history of visceral malignancy, 9 had a personal history of visceral malignancy. Limitations Only one sebaceous tumor from each patient (except one) was tested for MMR, which might reduce the sensitivity. Conclusion Our findings demonstrate an increased frequency of internal malignancy in patients with sebaceous neoplasms compared with the general population, and highlight the heterogeneous nature of the visceral tumors. A majority of the sebaceous tumors show loss of MMR expression. The study reminds us to strive toward a consistent and comprehensive approach to screening for internal malignancy when a patient is given a diagnosis of a sebaceous neoplasm.