Clinicopathologic significance of defective DNA mismatch repair in endometrial carcinoma
Clinicopathologic significance of defective DNA mismatch repair in endometrial carcinoma
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DOI：
10.1200/jco.2005.04.1574
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发表时间：
2006-04-10
影响因子：
45.3
通讯作者：
Boyd, J
中科院分区：
文献类型：
--
作者：
Black, D;Soslow, RA;Boyd, J
目的：DNA错配修复缺陷通常存在于胃肠道、子宫内膜和其他癌症的散发性表现中。这种修复缺陷的特异性分子表现是微卫星不稳定性（MSI）。在这里，我们测试的假设，MSI预测子宫内膜癌的临床病理特征。患者和MethodsA回顾性队列473例子宫内膜癌治疗在这个机构被确定。所有病例均由妇科病理学家审查，临床信息从病历中提取。使用共识标准，非肿瘤和肿瘤组织对的DNA样本进行MSI基因分型。MSI状态和病理和临床变量之间的关联assessed.Results93（20%）的473肿瘤MSI+。MSI+肿瘤组与MSI-肿瘤组相比，晚期肿瘤的比例高于早期肿瘤（92% vs81%; P =.01），类胶质瘤与非类胶质瘤组织学亚型的比例也是如此。（94% v23%; P = 0.001），以及有肌层浸润的肿瘤与无肌层浸润的肿瘤的比例（92% v78%; P = 0.01）。通过多因素分析，无病生存（风险比，0.3，-95%CI，0.2至0.7）和疾病特异性生存（风险比，0.3; 95%CI，0.1至0.8）显着改善患者MSI+ tumors.ConclusionIn子宫内膜癌，MSI的存在是独立相关的一个更有利的临床结果。
PurposeDefective DNA mismatch repair is commonly present in sporadic manifestations of gastrointestinal, endometrial, and other cancers. The pathognomonic molecular manifestation of this repair defect is microsatellite instability (MSI). Here, we test the hypothesis that MSI predicts the clinicopathologic features of endometrial carcinoma.Patients and MethodsA retrospective cohort of 473 patients treated for endometrial carcinoma at this institution was identified. All cases were reviewed by a gynecologic pathologist, and clinical information was abstracted from medical records. Using consensus criteria, DNA samples from nontumor and tumor tissue pairs were genotyped for MSI. Associations between MSI status and pathologic and clinical variables were assessed.ResultsNinety-three (20%) of 473 tumors were MSI+. In the MSI+ tumor group compared with the MSI-tumor group, the proportion of advanced compared with early-stage tumors was higher (92% v 81%; P =.01), as was the proportion of tumors of endometrioid compared with nonendometrioid histologic subtype (94% v23%; P =.001), and the proportion of tumors with myometrial invasion compared with those with none (92% v 78%; P =.01). By multivariate analyses, disease-free survival (hazard ratio, 0.3,- 95% Cl, 0.2 to 0.7) and disease-specific survival (hazard ratio, 0.3; 95% Cl, 0.1 to 0.8) were significantly improved in patients with MSI+ tumors.ConclusionIn endometrial carcinoma, the presence of MSI was independently associated with a more favorable clinical outcome.