NYU Grossman School of Medicine, New York, NY, United States.
NYU Langone Health, New York, NY, United States.
Gynecol Oncol. 2023 Aug;175:20-24. doi: 10.1016/j.ygyno.2023.04.013. Epub 2023 Jun 7.
Although universal mismatch repair (MMR) immunohistochemistry (IHC) in endometrial cancer began at our institution in July 2015, not all eligible patients were referred for genetic testing (GT). In April 2017, genetic counselors obtained IHC data and contacted physicians to approve genetic counseling referrals (GCRs) for Lynch Syndrome (LS) in eligible patients. We assessed if this protocol increased frequency of GCRs and GT in patients with abnormal MMR IHC.
We retrospectively (7/2015-5/2022) identified patients with abnormal MMR IHC at a large urban hospital. GCRs and GT were compared between cases from 7/2015-4/2017 (pre-protocol) and 5/2017-5/2022 (post-protocol) with chi-square and Fisher's exact tests.
Of 794 patients with IHC testing, 177 (22.3%) had abnormal MMR results with 46 (26.0%) meeting criteria for LS screening with GT. Of 46 patients, 16 (34.8%) were identified prior to and 30 (65.2%) after the protocol initiation. GCRs significantly increased from 11/16 (68.8%) to 29/30 (96.7%) in the pre-protocol versus post-protocol groups, p = 0.02. There was no statistically significant difference in GT between groups (10/16, 62.5% vs 26/30, 86.7%, p = 0.07). Of 36 patients who underwent GT, 16 (44.4%) had LS: MSH6, 9; MSH2, 4; PMS2, 2; MLH1, 1.
Increased frequency of GCRs was observed following the change in protocol, which is important as LS screening has clinical implications for patients and their families. Despite this additional effort, approximately 15% who met criteria did not undergo GT; further efforts such as universal germline testing in patients with endometrial cancer should be considered.
尽管我们机构自 2015 年 7 月开始对子宫内膜癌进行普遍的错配修复（MMR）免疫组织化学（IHC）检测，但并非所有符合条件的患者都被转介进行基因检测（GT）。2017 年 4 月，遗传咨询师获取了 IHC 数据，并联系医生批准符合林奇综合征（LS）条件的患者进行遗传咨询转诊（GCR）。我们评估了该方案是否会增加异常 MMR IHC 患者的 GCR 和 GT 频率。
我们回顾性地（2015 年 7 月至 2022 年 5 月）在一家大型城市医院中确定了 MMR IHC 异常的患者。使用卡方检验和 Fisher 精确检验比较了 2015 年 7 月至 2017 年 4 月（方案前）和 2017 年 5 月至 2022 年 5 月（方案后）的病例中的 GCR 和 GT。
在接受 IHC 检测的 794 名患者中，177 名（22.3%）的 MMR 结果异常，其中 46 名（26.0%）符合 LS 筛查的 GT 标准。在这 46 名患者中，有 16 名（34.8%）在方案实施前确定，30 名（65.2%）在方案实施后确定。在方案前组中，GCR 从 11/16（68.8%）显著增加到 29/30（96.7%），p=0.02。两组之间 GT 无统计学差异（10/16，62.5%比 26/30，86.7%，p=0.07）。在接受 GT 的 36 名患者中，16 名（44.4%）患有 LS：MSH6，9；MSH2，4；PMS2，2；MLH1，1。
在方案改变后，GCR 的频率增加，这很重要，因为 LS 筛查对患者及其家属具有临床意义。尽管做了额外的努力，仍有约 15%符合条件的患者未接受 GT；应考虑进一步努力，如对子宫内膜癌患者进行普遍的种系检测。
