Pathological Anatomy Service, Canary University Hospital, Tenerife, Spain.
Faculty of Health Sciences, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.
Clin Transl Oncol. 2022 Sep;24(9):1809-1817. doi: 10.1007/s12094-022-02837-4. Epub 2022 May 5.
In endometrial cancer, the incidence of mutations in mismatch repair genes (MMR) is estimated at 17-30%. Patients with alterations at this level (MSI) are known to have different clinical and anatomopathological characteristics than those without this genetic alteration (MSS). In this study, we aim to identify the MSI phenotype in patients who underwent hysterectomy for endometrial cancer. We assessed the correlation of this phenotype with anatomoclinical parameters such as obesity and histological subtype.
METHODS/PATIENTS: Clinical and anatomopathological data were collected from 147 patients diagnosed with endometrial cancer and an immunohistochemical study of MMR system proteins was performed. PMS2 and MSH6 proteins were evaluated as primary screening and subsequent evaluation of MLH1 and MSH6, respectively, if the former were negative. Statistical association between the anatomopathological data and the immunohistochemical result was analyzed.
22.4% of our patients were MSI phenotype. We obtained statistically significant differences by multivariate analysis between endometrioid subtype and higher FIGO classification grade with MSI phenotype and obesity with MSS phenotype. Given these statistical results, we propose a function for predicting the probability of being MSI phenotype taking into account the histological subtype (endometrioid/non-endometrioid carcinoma) and FIGO grade as well as obesity. This prediction may be useful prior to hysterectomy, for genetic study of the MLH1 promoter and subsequent genetic counseling.
在子宫内膜癌中，错配修复基因（MMR）的突变发生率估计为 17-30%。与没有这种遗传改变（MSS）的患者相比，具有这种水平改变（MSI）的患者具有不同的临床和解剖病理学特征。在这项研究中，我们旨在确定接受子宫内膜癌子宫切除术的患者的 MSI 表型。我们评估了这种表型与肥胖和组织学亚型等解剖临床参数的相关性。
方法/患者：收集了 147 名被诊断为子宫内膜癌的患者的临床和解剖病理学数据，并对 MMR 系统蛋白进行了免疫组织化学研究。PMS2 和 MSH6 蛋白作为原发性筛选进行评估，如果前者为阴性，则对 MLH1 和 MSH6 进行后续评估。分析了解剖病理学数据与免疫组织化学结果之间的统计学关联。
我们的患者中有 22.4%为 MSI 表型。通过多变量分析，我们获得了具有统计学意义的差异，即 MSI 表型与子宫内膜样亚型和更高的 FIGO 分级以及 MSS 表型与肥胖相关，而与非子宫内膜样癌和较低的 FIGO 分级相关。鉴于这些统计结果，我们提出了一种考虑组织学亚型（子宫内膜样癌/非子宫内膜样癌）和 FIGO 分级以及肥胖的预测 MSI 表型概率的功能。在子宫切除术前，这种预测可能对 MLH1 启动子的遗传研究和随后的遗传咨询有用。
