Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-Like syndrome versus patients with Lynch syndrome
Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-Like syndrome versus patients with Lynch syndrome
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DOI：
10.1016/j.humpath.2015.06.022
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发表时间：
2015-11-01
期刊：
影响因子：
3.3
通讯作者：
Pai, Reetesh K.
中科院分区：
文献类型：
--
作者：
Mas-Moya, Jenny;Dudley, Beth;Pai, Reetesh K.
筛查结直肠癌和子宫内膜癌中的DNA错配修复（MMR）缺陷可识别Lynch综合征风险患者。一些患有MMR缺陷型肿瘤的患者没有生殖系突变的证据，并被描述为患有林奇样综合征。我们比较了Lynch样综合征和Lynch综合征患者的结直肠癌和子宫内膜癌的临床病理特征。在3352例结直肠癌和215例子宫内膜癌患者中，356例（10.6%）和72例（33%）患者的DNA MMR缺陷得到了普遍筛查。66例患者进行了生殖系突变分析，其中45例患者（68%）有生殖系MMR基因突变的证据，证实了Lynch综合征，21例患者（32%）患有Lynch样综合征，没有双生突变的证据。与Lynch综合征患者相比，大多数Lynch样综合征患者的癌累及右半结肠（93%对45%; P <0.002）。所有表现出孤立的MSH 6表达缺失的结直肠癌患者均经种系突变分析证实患有Lynch综合征。与Lynch样综合征相比，Lynch综合征患者中更常见同步或异时性Lynch综合征相关癌（38% vs 7%; P = 0.04）。Lynch样综合征和Lynch综合征合并子宫内膜癌患者的临床病理变量无显著差异。总之，32%的MMR患者。缺乏Lynch综合征将有Lynch样综合征。我们的研究结果表明，Lynch样综合征患者更有可能患有右侧结直肠癌，不太可能患有同步或异时Lynch综合征相关癌，并且不太可能在其肿瘤内表现出孤立的MSH 6表达缺失。(C)2015爱思唯尔公司All rights reserved.
Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a gemiline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P < .002). All patients with colorectal carcinomas demonstrating isolated loss of MSH6 expression had Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR. deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. (C) 2015 Elsevier Inc. All rights reserved.