背景 皮脂腺肿瘤（SNs）常常引起与Muir-Torre (MTS) 综合征的关联，并能在其成为症状性之前检测到内部恶性肿瘤，如结直肠和子宫内膜癌。免疫组化（IHC）、分子生物学和临床检查是检测MTS的不同方法。我们对非选定SNs进行了回顾性分析，以确定用于MTS筛查的最佳工具。 方法 通过组织芯片上使用针对四种错配修复（MMR）抗原的抗体进行的IHC或使用五重聚合酶链反应（pentaplex PCR）的分子生物学检测来确定缺失MMR表型（dMMR）。从医疗记录中计算MTS的Mayo-Clinic-Risk评分。确定每个检测MTS的测试的敏感性和特异性。 结果 我们共纳入了107名患者，其中8名患者有多个SNs，总共有123个SNs（43个脂腺瘤，19个脂腺乳头状瘤和61个脂腺癌（SC））。70.7%的肿瘤至少有一种MMR蛋白质缺失，48%表现为微卫星不稳定表型。两种技术的一致性为92.9%，Cohen's kappa系数为0.85。19名患者（20.2%）的Mayo-Clinic-Risk评分≥2分，其中1名患者患有pMMR SC。在13名确诊MTS患者中，2名患者的Mayo-Clinic-Risk评分偏低（1分）。IHC对MTS筛查的敏感性最高（100%），特异性为34.1%，而Mayo-Clinic-Risk评分>2分的敏感性较低（92%），但特异性较高（89%）。 结论 在SNs患者中检测MTS，首选Mayo-Clinic-Risk评分，然后是IHC，这是最准确且成本较低的策略。该策略应根据每个国家的医疗资源进行调整。 .S. Karger AG, 巴塞尔。

Background Sebaceous neoplasms (SNs) always raise the possibility of an association with Muir-Torre syndrome (MTS) and permit to screen internal malignancies, colorectal and endometrial carcinomas, before they become symptomatic. Immunohistochemistry (IHC), molecular biology and clinical examination are different approaches for detection of MTS. We conducted a retrospective analysis of non-selected SNs in order to determine the optimal tools to implement for MTS screening. Methods Deficient MMR phenotype (dMMR) was determined by either IHC using antibodies directed to four mismatch repair (MMR) antigens on tissue-microarray or molecular biology using pentaplex PCR. The Mayo-Clinic-Risk score of MTS was calculated from medical records. Sensibility and specificity of each test for the detection of MTS was determined. Results We included 107 patients, 8 with multiple SNs, for a total of 123 SNs (43 sebaceous adenomas, 19 sebaceomas and 61 sebaceous carcinomas (SC)). Loss of at least one MMR protein was observed in 70.7% of tumors while 48% had a microsatellite instable phenotype. Concordance between both techniques was 92.9%, with a 0.85 Cohen's kappa coefficient. Nineteen patients (20.2%) had a ≥2 points Mayo-Clinic-Risk-Score, one having a pMMR SC. Among the 13 patients with confirmed MTS, 2 had a low Mayo-Clinic-risk score (1 point). IHC had the highest sensitivity for MTS screening (100%) with a specificity of 34.1% while a >2 points Mayo-Clinic-Risk-Score had a lower sensitivity (92%) but a higher specificity (89%). Conclusion To detect MTS in SNs patients, first line Mayo-Clinic-risk-score followed by IHC appears the most accurate strategy with lower cost for society. This strategy should be adapted to the medico-economic resources of each country.  .S. Karger AG, Basel.