Division of Dermatology, Washington University School of Medicine, St Louis, Missouri, USA.
J Am Acad Dermatol. 2012 Dec;67(6):1228-34. doi: 10.1016/j.jaad.2012.03.020. Epub 2012 Apr 30.
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.
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.
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.
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.
Only one sebaceous tumor from each patient (except one) was tested for MMR, which might reduce the sensitivity.
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.
内脏恶性肿瘤与 Muir-Torre 综合征患者的皮脂腺肿瘤有关。然而，尚未进行大规模研究来评估患有皮脂腺肿瘤和错配修复（MMR）蛋白表达的患者中内脏肿瘤的频率。
我们旨在确定患有皮脂腺肿瘤的患者中内脏肿瘤的频率、皮脂腺肿瘤的 MMR 蛋白表达以及医生的相关监测实践。
我们确定了 85 例患有皮脂腺肿瘤的患者。通过病历回顾和数据库搜索获得相关临床信息。通过免疫组织化学检查 MMR 蛋白表达。
85 例患者中有 19 例共发生 22 种内脏恶性肿瘤，其中 41%源于泌尿生殖系统。17 例（59%）患有内脏恶性肿瘤的患者的皮脂腺肿瘤或体细胞 MMR 突变中存在 MMR 表达缺失。30 例患者有其他发现，如结肠腺瘤和息肉。在 23 例有内脏恶性肿瘤家族史的患者中，有 9 例有个人内脏恶性肿瘤史。
每位患者仅检测了一个（除一个外）皮脂腺肿瘤的 MMR，这可能会降低敏感性。
与一般人群相比，我们的研究结果表明患有皮脂腺肿瘤的患者中内部恶性肿瘤的频率增加，并强调了内脏肿瘤的异质性。大多数皮脂腺肿瘤显示 MMR 表达缺失。该研究提醒我们，当患者被诊断为皮脂腺肿瘤时，应努力采取一致和全面的方法来筛查内部恶性肿瘤。
