针对前列腺癌患者的通用种系遗传学检测,临床医生提出的管理建议。

IF 5.9 2区 医学 Q1 UROLOGY & NEPHROLOGY
Journal of Urology Pub Date : 2024-12-01 Epub Date: 2024-08-09 DOI:10.1097/JU.0000000000004190
Neal Shore, Christopher Pieczonka, Sean Heron, Mukaram Gazi, David Cahn, Laurence H Belkoff, Aaron Berger, Brian Mazzarella, Joseph Veys, Charles Idom, David Morris, Gautam Jayram, Alexander Engelman, Paul Dato, Richard Bevan-Thomas, David R Wise, Mary Kay Hardwick, Susan Rojahn, Paige Layman, Brandie Heald, Rachel E Ellsworth, Kathryn E Hatchell, Robert L Nussbaum, Sarah M Nielsen, Edward D Esplin
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引用次数: 0

摘要

目的:鉴定前列腺癌患者的致病性种系变异有助于为治疗选择、筛查继发性恶性肿瘤和级联检测提供依据。有关前列腺癌患者种系基因检测后临床医生建议的真实世界数据有限:从通过 PROCLAIM 试验接受种系检测的未入选前列腺癌患者中收集患者数据和临床医生建议。患者组间的差异通过双尾费雪精确检验确定,显著性设定为 P <.05。在控制诊断时间(新诊断与既往诊断)的情况下,进行了逻辑回归以评估检测结果对临床决策的影响:在 982 例患者中,100 例(10%)为阳性(>1 个致病基因变异体),482 例(49%)结果不确定(>1 个意义不确定的变异体),400 例(41%)为阴性。与阴性或结果不确定的患者相比,结果呈阳性的患者接受改变治疗方法(18% vs 1.4%,P < .001)、改变随访(64% vs 11%,P < .001)和级联检测(71% vs 5.4%,P < .001)建议的几率明显更高。逻辑回归结果表明,在控制新诊断或既往诊断的情况下,阳性结果和不确定结果与治疗和随访的改变有显著相关性(P < .001):种系基因检测结果为前列腺癌患者的临床建议提供了依据,尤其是在检测结果为阳性的患者中。结果不确定的患者改变临床治疗方案的比例高于预期,这凸显出临床医生需要加强对前列腺癌患者的遗传学教育。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinician-Reported Management Recommendations in Response to Universal Germline Genetic Testing in Patients With Prostate Cancer.

Purpose: Identification of pathogenic germline variants in patients with prostate cancer can help inform treatment selection, screening for secondary malignancies, and cascade testing. Limited real-world data are available on clinician recommendations following germline genetic testing in patients with prostate cancer.

Materials and methods: Patient data and clinician recommendations were collected from unselected patients with prostate cancer who underwent germline testing through the PROCLAIM trial. Differences among groups of patients were determined by 2-tailed Fisher's exact test with significance set at P < .05. Logistic regression was performed to assess the influence of test results in clinical decision-making while controlling for time of diagnosis (newly vs previously diagnosed).

Results: Among 982 patients, 100 (10%) were positive (1 pathogenic germline variant), 482 (49%) had uncertain results (1 variant of uncertain significance), and 400 (41%) were negative. Patients with positive results were significantly more likely than those with negative or uncertain results to receive recommendations for treatment changes (18% vs 1.4%, P < .001), follow-up changes (64% vs 11%, P < .001), and cascade testing (71% vs 5.4%, P < .001). Logistic regression demonstrated that positive and uncertain results were significantly associated with both changes to treatment and follow-up (P < .001) when controlling for new or previous diagnosis.

Conclusions: Germline genetic testing results informed clinical recommendations for patients with prostate cancer, especially in patients with positive results. Higher than anticipated rates of clinical management changes in patients with uncertain results highlight the need for increased genetic education of clinicians treating patients with prostate cancer.

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来源期刊
Journal of Urology
Journal of Urology 医学-泌尿学与肾脏学
CiteScore
11.50
自引率
7.60%
发文量
3746
审稿时长
2-3 weeks
期刊介绍: The Official Journal of the American Urological Association (AUA), and the most widely read and highly cited journal in the field, The Journal of Urology® brings solid coverage of the clinically relevant content needed to stay at the forefront of the dynamic field of urology. This premier journal presents investigative studies on critical areas of research and practice, survey articles providing short condensations of the best and most important urology literature worldwide, and practice-oriented reports on significant clinical observations.
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