Holtzman Sharonne, Velasquez Jessica, Saleh Mona, Cohen Samantha, Prasad-Hayes Monica, Zeligs Kristen, Blank Stephanie V
Department of Obstetrics, Gynecology and Reproductive Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
J Gynecol Oncol. 2025 Mar;36(2):e94. doi: 10.3802/jgo.2025.36.e94.
The primary goal of this study is to examine disparities in high-risk endometrial cancer (EC) patients in relation to rates of genetic referrals (GR), testing (GT), and counseling (GC).
This is a retrospective analysis of patients with newly diagnosed EC between January 1, 2014 and September 1, 2020 at a single institution. Patients were defined as high-risk EC patients when they were 1) diagnosed at 50 years or younger, 2) had a positive family history for cancer or 3) had evidence of loss of mismatch repair protein expression on tumor immunohistochemistry. Rates of GR, GT and GC were analyzed based on race, ethnicity, primary language and insurance status.
During the study period, 674 patients were diagnosed with EC and 249 (36.9%) were considered high-risk EC patients. Among high-risk patients, 128 (51.2%) were referred to GT and GC. Of those referred, 103 (80.5%) underwent GT and 85 (66.4%) completed GC. Out of all high-risk patients, 20 (18.4%) were positive for LS on GT and 29 (28.2%) had VUS results. In multivariate analysis, the odds of GT and GC referral were lower among patients who identified as Hispanic (OR=0.40; 95% CI=0.19-0.87; p=0.020). Patients who identified as black were less likely to receive GC when compared to patients of other races (p=0.030).
It is our hope that through this data we will increase awareness around existing disparities in genetic evaluation for patients with EC and ultimately create strategies to improve equitable access to care for all patients.
本研究的主要目标是探讨高危子宫内膜癌（EC）患者在基因转诊率（GR）、检测率（GT）和咨询率（GC）方面的差异。
这是一项对2014年1月1日至2020年9月1日期间在单一机构新诊断为EC的患者进行的回顾性分析。当患者符合以下条件时被定义为高危EC患者：1）50岁及以下确诊；2）有癌症家族史阳性；3）肿瘤免疫组化显示错配修复蛋白表达缺失。根据种族、民族、主要语言和保险状况分析GR、GT和GC的比率。
在研究期间，674例患者被诊断为EC，249例（36.9%）被认为是高危EC患者。在高危患者中，128例（51.2%）被转诊进行GT和GC。在那些被转诊的患者中，103例（80.5%）接受了GT，85例（66.4%）完成了GC。在所有高危患者中，20例（18.4%）GT检测显示林奇综合征（LS）阳性，29例（28.2%）有意义未明的变异（VUS）结果。在多变量分析中，自我认定为西班牙裔的患者接受GT和GC转诊的几率较低（比值比[OR]=0.40；95%置信区间[CI]=0.19-0.87；p=0.020）。与其他种族的患者相比，自我认定为黑人的患者接受GC的可能性较小（p=0.030）。
我们希望通过这些数据提高对EC患者基因评估中现有差异的认识，并最终制定策略，以改善所有患者获得公平医疗服务的机会。
