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一家高遗传风险前列腺癌诊所的初步研究结果。

Initial Findings from a High Genetic Risk Prostate Cancer Clinic.

作者信息

Sessine Michael S, Das Sanjay, Park Bumsoo, Salami Simpa S, Kaffenberger Samuel D, Kasputis Amy, Solorzano Marissa, Luke Mallory, Vince Randy A, Kaye Deborah R, Borza Tudor, Stoffel Elena M, Cobain Erin, Merajver Sofia D, Jacobs Michelle F, Milliron Kara J, Caba Laura, van Neste Leander, Mondul Alison M, Morgan Todd M

机构信息

Department of Urology, Michigan Medicine.

Department of Urology, Michigan Medicine; Department of Family Medicine, Michigan Medicine.

出版信息

Urology. 2021 Oct;156:96-103. doi: 10.1016/j.urology.2021.05.078. Epub 2021 Jul 17.

Abstract

OBJECTIVE

To improve prostate cancer screening for high-risk men, we developed an early detection clinic for patients at high genetic risk of developing prostate cancer. Despite the rapidly growing understanding of germline variants in driving aggressive prostate cancer and the increased availability of genetic testing, there is little evidence surrounding how best to screen these men.

METHODS

We are reporting on the first 45 patients enrolled, men between the ages of 35-75, primarily with known pathogenic germline variants in prostate cancer susceptibility genes. Screening consists of an intake lifestyle survey, PSA, DRE, and SelectMDx urine assay. A biopsy was recommended for any of the following indications: 1) abnormal DRE, 2) PSA above threshold, or 3) SelectMDx above threshold. The primary outcomes were number needed to screen, and number needed to biopsy to diagnose a patient with prostate cancer.

RESULTS

Patients enrolled in the clinic included those with BRCA1 (n=7), BRCA2 (n=16), Lynch Syndrome (n=6), and CHEK2 (n = 4) known pathogenic germline variants. The median age and PSA were 58 (range 35-71) and 1.4 ng/ml (range 0.1-11.4 ng/ml), respectively. 12 patients underwent a prostate needle biopsy and there were 4positive biopsies for prostate cancer.

CONCLUSION

These early data support the feasibility of opening a dedicated clinic for men at high genetic risk of prostate cancer. This early report on the initial enrollment of our long-term study will help optimize early detection protocols and provide evidence for personalized prostate cancer screening in men with key pathogenic germline variants.

摘要

目的

为改善对高危男性的前列腺癌筛查,我们为有前列腺癌高遗传风险的患者开设了一家早期检测诊所。尽管对种系变异在侵袭性前列腺癌发生中的作用的认识迅速增加,且基因检测的可及性提高,但关于如何最佳筛查这些男性的证据很少。

方法

我们报告了首批入组的45例患者,年龄在35至75岁之间的男性,主要是在前列腺癌易感基因中存在已知的致病种系变异。筛查包括一份生活方式问卷调查、前列腺特异性抗原(PSA)检测、直肠指检(DRE)和SelectMDx尿液检测。出现以下任何一种情况时建议进行活检:1)DRE异常,2)PSA高于阈值,或3)SelectMDx高于阈值。主要结果是筛查所需人数以及诊断出前列腺癌患者所需的活检人数。

结果

入组该诊所的患者包括那些携带BRCA1(n = 7)、BRCA2(n = 16)、林奇综合征(n = 6)和CHEK2(n = 4)已知致病种系变异的患者。中位年龄和PSA分别为58岁(范围35 - 71岁)和1.4 ng/ml(范围0.1 - 11.4 ng/ml)。12例患者接受了前列腺穿刺活检,其中4例活检结果为前列腺癌阳性。

结论

这些早期数据支持为有前列腺癌高遗传风险的男性开设专门诊所的可行性。我们长期研究首次入组的这份早期报告将有助于优化早期检测方案,并为具有关键致病种系变异的男性进行个性化前列腺癌筛查提供证据。

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