Gupta Surabhi, Nichols Cassandra B, Phillips Jessica, O'Sullivan Sarah, Ayres Chloe, Mohan Ganendra Raj, Leung Yee, Stewart Colin J R, Tan Adeline, Schofield Lyn, Salfinger Stuart G, Kiraly-Borri Catherine, Pachter Nicholas, Cohen Paul A
Department of Gynaecological Oncology, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
Genetic Services of Western Australia, Subiaco, Western Australia, Australia.
Int J Gynecol Cancer. 2021 Jun;31(6):846-851. doi: 10.1136/ijgc-2020-002299. Epub 2021 Apr 15.
In 2016 universal screening with mismatch repair protein immunohistochemistry in all newly diagnosed endometrial carcinomas was introduced in Western Australia.
To compare the prevalence of Lynch syndrome associated endometrial carcinomas between 2016 and 2019 with a historical control (2015). Additionally, to compare the number of cases appropriately referred for genetic assessment.
A cross-sectional study of cases presented at the Western Australia gynecologic oncology tumor board was carried out. The primary outcome was the prevalence of Lynch syndrome associated endometrial carcinomas. A secondary outcome was the number of cases appropriately referred for genetic assessment. The following variables were extracted: date of birth; age at diagnosis; vital status; tumor mismatch repair protein expression status (retained or lost) and if lost, the specific mismatch repair protein deficiency; patients who were referred to a genetic clinic; and family history, if recorded. Data were collected from the clinical databases of the Familial Cancer Program at Genetic Services of Western Australia and WOMEN Center, to determine whether patients were appropriately referred for genetic evaluation and to ascertain the results of genetic testing.
Between 2016 and 2019, there were 1040 new endometrial carcinomas. Tumors of 883 (85%) patients underwent mismatch repair protein immunohistochemistry compared with 117 of 199 patients (59%) in 2015 (χ 73.14, p<0.001). Of 883 tumors tested, 242 (27%) showed loss of mismatch repair protein expression. In 2015, 30 (26%) tumors of 117 tested showed loss of mismatch repair protein expression. During the 4 years of universal screening, 13 (1.5%) of 883 patients screened were diagnosed with Lynch syndrome compared with 2 (1.7%) of 117 in 2015 (Fisher's exact test 0.04, p=0.69). In 2015, 11 (37%) of 30 patients with loss of mismatch repair protein expression were not referred for genetic assessment compared with 36 (17%) of 209 patients in the universal screening group (χ 6.28, p=0.02). No cases of Lynch syndrome were diagnosed in patients aged over 70 years.
Universal immunohistochemical screening did not increase the proportion of Lynch syndrome associated endometrial carcinomas identified, although the study was underpowered to detect small differences. There was an improvement in appropriate referrals for genetic assessment.
2016年，西澳大利亚州引入了对所有新诊断的子宫内膜癌进行错配修复蛋白免疫组化的普遍筛查。
比较2016年至2019年与历史对照组（2015年）之间林奇综合征相关子宫内膜癌的患病率。此外，比较适当转诊进行基因评估的病例数。
对提交至西澳大利亚州妇科肿瘤学肿瘤委员会的病例进行横断面研究。主要结局是林奇综合征相关子宫内膜癌的患病率。次要结局是适当转诊进行基因评估的病例数。提取了以下变量：出生日期；诊断时年龄；生命状态；肿瘤错配修复蛋白表达状态（保留或缺失），若为缺失，则为特定错配修复蛋白缺陷；转诊至基因诊所的患者；以及家族史（若有记录）。从西澳大利亚州基因服务处家族癌症项目和妇女中心的临床数据库收集数据，以确定患者是否被适当转诊进行基因评估，并确定基因检测结果。
2016年至2019年期间，有1040例新的子宫内膜癌。883例（85%）患者的肿瘤进行了错配修复蛋白免疫组化，而2015年199例患者中有117例（59%）进行了检测（χ² = 73.14，p<0.001）。在检测的883个肿瘤中，242个（27%）显示错配修复蛋白表达缺失。2015年，在检测的117个肿瘤中，30个（26%）显示错配修复蛋白表达缺失。在4年的普遍筛查期间，883例接受筛查的患者中有13例（1.5%）被诊断为林奇综合征，而2015年117例中有2例（1.7%）（Fisher精确检验，χ² = 0.04，p = .69）。2015年，30例错配修复蛋白表达缺失的患者中有11例（37%）未被转诊进行基因评估，而普遍筛查组209例患者中有36例（17%）（χ² = 6.28，p = 0.02）。70岁以上患者未诊断出林奇综合征病例。
普遍免疫组化筛查并未增加所识别的林奇综合征相关子宫内膜癌的比例，尽管该研究检测微小差异的能力不足。在适当转诊进行基因评估方面有了改善。
