Mismatch repair proteins expression and microsatellite instability in skin lesions with sebaceous differentiation: A study in different clinical subgroups with and without extracutaneous cancer
Mismatch repair proteins expression and microsatellite instability in skin lesions with sebaceous differentiation: A study in different clinical subgroups with and without extracutaneous cancer
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DOI：
10.1097/dad.0b013e318057713c
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发表时间：
2007-08-01
影响因子：
1.1
通讯作者：
Facchetti, Tabio
中科院分区：
文献类型：
--
作者：
Cesinaro, Anna Maria;Ubiali, Alessandro;Facchetti, Tabio
Muir-Torre综合征（NITS）被定义为皮脂腺肿瘤或角棘瘤与主要来自胃肠道或泌尿生殖道的皮外肿瘤的关联。MTS与遗传性非息肉病性结直肠癌（HNPCC）有关，HNPCC是一种错配修复（MMR）基因发生种系突变的综合征，导致微卫星不稳定性（MSI）。在这项研究中，我们使用免疫组织化学和微卫星不稳定性测定，分析了70例患者的79例皮脂腺病变中MMR基因异常的发生率，其中26例同时患有皮外内脏肿瘤。我们无法调查其他肿瘤患者的家族史，以评估哪些病例符合阿姆斯特丹标准。MMR蛋白表达缺陷（MMR-）在18/70（25.7%）患者中发现，在孤立皮肤肿瘤患者（11/44,25.0%）和皮外癌患者（7/26,25.4%）之间的分布相同。在散发性组中，MMR阴性病变在面外区域更为常见（P = 0.03）。同一患者皮脂腺病变与皮外肿瘤的MMR表达高度一致（20/ 23,86.9%），MMR表达与微卫星状态高度一致（18/ 20,90%）。总之，本研究证实了免疫组织化学在鉴别MMR缺陷肿瘤中的价值。然而，由于只有少数皮脂腺肿瘤同时患有皮外癌的患者显示MMR缺陷，因此这些技术对“临床定义”NITS的识别价值有限。
Muir-Torre syndrome (NITS) is defined as the association of a sebaceous tumor or keratoacanthoma and an extracutaneous neoplasm, mainly from the gastrointestinal or genitourinary tracts. MTS is related to hereditary non-polyposis colorectal cancer (HNPCC), a syndrome with germline mutations in the mismatch repair (MMR) gene(s), leading to microsatellite instability (MSI). In this study, using immunohistochemistry and a microsatellite instability assay, we analyzed the Incidence of MMR gene abnormalities in 79 sebaceous lesions from 70 patients, 26 of whom also had an extracutaneous visceral neoplasm. We were unable to investigate the family histories of our patients regarding other tumors in order to assess which of our cases met the Amsterdam criteria. Defective MMR protein expression (MMR-) was found in 18/70 (25.7%) patients, with an identical distribution between those having an isolated skin tumor (11/44, 25.0%) and those with an extracutaneous cancer (7/26, 25.4%). In the sporadic group, MMR negative lesions were significantly more frequent in extrafacial areas (P = 0.03). High concordance was found between MMR expression in sebaceous lesions and the extracutaneous neoplasm in the same patient (20/23, 86.9%), as well as between MMR expression and microsatellite status (18/20, 90%). In conclusion, this study confirms the value of immunohistochemistry to identify MMR defective tumors. However, since only a minority of sebaceous neoplasms in patients who also have an extracutaneous cancer display MMR defects, these techniques are of limited value for the identification of "clinically defined" NITS.