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路易斯安那州南部子宫内膜癌女性患者的肿瘤及胚系基因评估的实践模式与结果

Practice patterns and results of tumor and germline genetic evaluation of women with endometrial cancer in south Louisiana.

作者信息

McDougal Morgan, Nair-Fairless Pallavi, Weiss Tova, Dao Elizabeth, Chapple Andrew G, Jernigan Amelia

机构信息

Louisiana State University Health Sciences Center, School of Medicine, New Orleans, LA, United States.

Department of Obstetrics and Gynecology; Louisiana State University Health Sciences Center, New Orleans, LA, United States.

出版信息

Gynecol Oncol Rep. 2021 Feb 3;36:100717. doi: 10.1016/j.gore.2021.100717. eCollection 2021 May.

Abstract

The objectives were to describe rates of MMRd or MSI-H EC tumors, the prevalence of LS, the practice patterns of EC genetic evaluation and adherence to NCCN guidelines, and to identify disparities in the genetic evaluation of women with EC. A retrospective cohort study was performed on women with EC from 1/2013 to 12/2019, and information collected included demographics, personal and family history, EC diagnosis and treatment, and details of genetic evaluation. Statistical analysis included a multivariable logistic regression to adjust for all covariate effects simultaneously and Fisher exact tests of independence and Wilcoxon rank-sum tests to compare categorical and continuous covariates, respectively. Of the 286 women with EC, 80 EC tumors were tested, and 27.5% were MMRd or MSI-H. Of the 21 women who had germline testing, no cases of LS were identified. Before the NCCN recommended universal tumor testing, 17.6% of women had tumor testing performed compared to 60.0% after February of 2017 (OR = 2.51, 95% CI 1.89-3.32). Advanced cancer stage was nearly associated with an increased likelihood of tumor testing (OR = 1.40, 95% CI 1.00-1.97). No disparities were identified. We described patterns of genetic evaluation and tumor testing results for women with EC in south Louisiana and found similar rates of MMRd or MSI-H EC tumors as previously reported in other populations. Rates of tumor testing increased after the NCCN recommendation for universal tumor testing, but it is critical to identify weaknesses in this process and develop an algorithm to improve care for women with EC.

摘要

研究目的是描述错配修复缺陷(MMRd)或微卫星高度不稳定(MSI-H)的子宫内膜癌(EC)肿瘤发生率、林奇综合征(LS)的患病率、EC基因评估的实践模式以及对美国国立综合癌症网络(NCCN)指南的遵循情况,并确定EC女性患者基因评估中的差异。对2013年1月至2019年12月期间的EC女性患者进行了一项回顾性队列研究,收集的信息包括人口统计学、个人和家族史、EC诊断和治疗以及基因评估细节。统计分析包括多变量逻辑回归以同时调整所有协变量效应,以及分别用于比较分类和连续协变量的Fisher独立性精确检验和Wilcoxon秩和检验。在286例EC女性患者中,对80例EC肿瘤进行了检测,其中27.5%为MMRd或MSI-H。在21例进行种系检测的患者中,未发现LS病例。在NCCN建议进行普遍肿瘤检测之前,17.6%的女性进行了肿瘤检测,而在2017年2月之后这一比例为60.0%(比值比[OR]=2.51,95%置信区间[CI]为1.89-3.32)。癌症晚期几乎与肿瘤检测可能性增加相关(OR=1.40,95%CI为1.00-1.97)。未发现差异。我们描述了路易斯安那州南部EC女性患者的基因评估模式和肿瘤检测结果,发现MMRd或MSI-H的EC肿瘤发生率与其他人群先前报道的相似。在NCCN建议进行普遍肿瘤检测后,肿瘤检测率有所提高,但关键是要找出这一过程中的薄弱环节,并开发一种算法以改善EC女性患者的护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b152/7868632/d05a5ec0320d/gr1.jpg

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