Plocharczyk Elizabeth F, Frankel Wendy L, Hampel Heather, Peters Sara B
Department of Pathology, The Wexner Medical Center at The Ohio State University, Columbus, OH, USA.
Am J Dermatopathol. 2013 Apr;35(2):191-5. doi: 10.1097/DAD.0b013e31825f7efe.
The association between Lynch syndrome and sebaceous neoplasms is well characterized. The absence of expression of mismatch repair proteins (MMRPs) by immunohistochemistry (IHC) is often used in other Lynch-associated tumors to guide testing. IHC for MLH1, PMS2, MSH2, and MSH6 was performed on 36 benign and malignant sebaceous neoplasms with the absence of one or more MMRP in 38.9% of cases. Among lesions with abnormal IHC, 71.4% were missing both MSH2 and MSH6, 21.4% lacked MLH1 and PMS2, and 7.1% lacked only MSH6. Of the 10 patients with absent MMRP, 5 had gene-test confirmed Lynch syndrome, 3 had no suggestive personal or family medical history and 2 had no recorded data. Tumor-infiltrating lymphocytes in neoplasms with absent MMRP were statistically significantly greater than in those with intact MMRP (16.5 vs. 9.7, P = 0.027). MMRP deficiency is common in sebaceous neoplasms, suggesting the importance of screening for Lynch syndrome in these patients.
林奇综合征与皮脂腺肿瘤之间的关联已得到充分表征。在其他林奇相关肿瘤中，常通过免疫组织化学（IHC）检测错配修复蛋白（MMRPs）的表达缺失来指导检测。对36例良性和恶性皮脂腺肿瘤进行了MLH1、PMS2、MSH2和MSH6的免疫组织化学检测，38.9%的病例中存在一种或多种MMRP缺失。在免疫组织化学异常的病变中，71.4%同时缺失MSH2和MSH6，21.4%缺乏MLH1和PMS2，7.1%仅缺乏MSH6。在10例MMRP缺失的患者中，5例基因检测确诊为林奇综合征，3例无提示性的个人或家族病史，2例无记录数据。MMRP缺失的肿瘤中肿瘤浸润淋巴细胞在统计学上显著多于MMRP完整的肿瘤（16.5对9.7，P = 0.027）。MMRP缺陷在皮脂腺肿瘤中很常见，提示对这些患者进行林奇综合征筛查的重要性。
