Anatomic Pathology Institute, Catholic University of Sacred Hearth, Rome, Italy.
Department of Women, Children and Public Health Sciences, Operative Unit of Geral anatomi Pathology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Pathologica. 2022 Jun;114(3):189-198. doi: 10.32074/1591-951X-775.
Endometrial carcinoma (EC) is the most common gynecological malignant disease in high income countries. The 2020 edition of the World Health Organization (WHO) Classification of Tumors of the Female Genital Tract underlines the important clinical implications of the new integrated histo-molecular classification system, in order to correctly define the specific prognostic risk group. This survey analysis will focus on the most commonly adopted immunohistochemical and molecular biomarkers used in daily clinical characterization of a diagnosed endometrial carcinoma in Italian labs.
An evaluation questionnaire was distributed to 41 Italian pathology laboratories. Normal habits in EC evaluation, especially regarding mismatch repair status (MMR) and microsatellite instability (MSI), were collected. A summary and a descriptive statistical analysis were used to show the current practice of each laboratory.
The analysis of MMR status by immunohistochemistry (IHC) is carried out on the majority of all EC samples. The most frequent strategy for the analysis of MMR status in EC is IHC of four proteins (PMS2, MSH6, MSH2, MLH1). MSI analysis by molecular method in endometrial cancer is rarer and more restricted to some circumstances. Hypermethylation of the promoter by methylation-specific PCR and pyrosequencing was analyzed in case of negative expression of MLH1/PMS2. Also, the analysis of p53 in EC is performed in the majority of cases. mutational profiling is adopted only in a limited number of laboratories. Fifty-five percent of Italian laboratories refer to national/international guidelines when analyzing biomarkers in EC (among those, 45% use the ESGO Guidelines, 18% ASCO-CAP, 18% AIOM, 14% WHO, 5% British Association of Gynaecological Pathologist, 5% ESMO, 5% NCCN).
Adoption of guidelines and standardization of pre-analytical and analytical procedures are effective tools for adequate EC prognostic risk stratification and high quality standard of care.
子宫内膜癌(EC)是高收入国家最常见的妇科恶性肿瘤。2020 年版世界卫生组织(WHO)女性生殖器官肿瘤分类强调了新的综合组织-分子分类系统的重要临床意义,以便正确定义特定的预后风险组。本调查分析将重点关注意大利实验室在日常临床诊断子宫内膜癌中常用的免疫组织化学和分子生物标志物。
向 41 家意大利病理学实验室分发评估问卷。收集了在 EC 评估中(尤其是错配修复状态(MMR)和微卫星不稳定性(MSI))的正常习惯。使用总结和描述性统计分析来显示每个实验室的当前实践。
大多数 EC 样本均通过免疫组织化学(IHC)检测 MMR 状态。在 EC 中分析 MMR 状态最常见的策略是免疫组化检测四种蛋白(PMS2、MSH6、MSH2、MLH1)。通过分子方法在子宫内膜癌中进行 MSI 分析则更为少见,且更限于某些情况。在 MLH1/PMS2 表达阴性的情况下,通过甲基化特异性 PCR 和焦磷酸测序分析启动子的 hypermethylation。在大多数情况下,还在 EC 中分析 p53。仅在少数实验室中采用 mutational profiling。55%的意大利实验室在分析 EC 中的生物标志物时参考国家/国际指南(其中 45%使用 ESGO 指南,18%使用 ASCO-CAP,18%使用 AIOM,14%使用 WHO,5%使用英国妇科病理学家协会,5%使用 ESMO,5%使用 NCCN)。
采用指南和标准化的分析前和分析程序是对 EC 进行充分的预后风险分层和高质量护理标准的有效工具。