关于建立临床实践中通过分子检测途径检测转移性前列腺癌患者同源重组修复基因变异的实用指导
Practical Guidance on Establishing a Molecular Testing Pathway for Alterations in Homologous Recombination Repair Genes in Clinical Practice for Patients with Metastatic Prostate Cancer.
发表日期:2023 Sep 13
作者:
Martin Schostak, Angela Bradbury, Alberto Briganti, David Gonzalez, Leonard Gomella, Joaquin Mateo, Frédérique Penault-Llorca, Albrecht Stenzinger, Alexander W Wyatt, Anders Bjartell
来源:
Best Pract Res Cl Ob
摘要:
前列腺癌是一种分子异质性疾病,可通过诊断测试来识别潜在适合个体化治疗的患者、提供家族风险信息,并为潜在预后提供相关信息。数个指南支持在共享决策框架中结合基因组学测试,以便让医疗保健专业人员 (HCPs) 和患者参与确定最佳治疗方法。为了审查有关转移前列腺癌患者同源重组修复 (HRR) 基因变化的分子诊断测试的最新指南,旨在提供有效指南实施和建立适当分子诊断测试路径的实际考虑因素。我们通过使用 PubMed 进行非系统叙述性文献综述来识别有关在前列腺癌患者中进行 BRCA 和/或同源重组修复基因变异 (HRRm) 的分子诊断测试的最新指南和推荐。此外,还评估了在转移性去势抵抗前列腺癌和真实世界证据中包含 BRCA/HRRm 测试的临床试验的选定文章。还审查了相关学会的网站以获得未在 PubMed 上发表的分子诊断指南。我们审查了数个国际学会发表的包含前列腺癌分子测试的指南,发现了分子测试方法的差异。对临床试验和现实世界环境中使用的测试方法的审查还突显了需要改进的几个方面。因此,我们编制了建立适当的 BRCA/HRR 突变测试路径的实践指南。虽然分子测试和测试结果解释存在若干挑战需要改进,但多学科团队的方法将使医疗保健专业人员及其机构能够改进或开展自己的分子测试路径。从而将促进转移性前列腺癌患者的管理策略改善,进而满足病情更好治疗结果的重要需求。在临床实践中建立转移性去势抵抗前列腺癌患者的分子测试路径,将实现个体化治疗的更公平和更平等的获得。这应该会带来更好的结果,特别是对于病情已蔓延到其他部位的患者。版权所有 © 2023 欧洲泌尿外科协会。由 Elsevier B.V. 发布。保留所有权利。
Prostate cancer is a molecularly heterogeneous disease that is amenable to diagnostic testing to identify patients potentially eligible for personalised treatments inform familial risk and provide relevant information about potential prognosis. Several guidelines support the integration of genomic testing in a shared decision-making framework so that both health care professionals (HCPs) and patients are involved in determining the best treatment approach.To review current guidelines on molecular diagnostic testing for homologous recombination repair (HRR) gene alterations in patients with metastatic prostate cancer, with the aim of providing practical considerations for effective guideline implementation and establishment of an appropriate pathway for molecular diagnostic testing.We undertook a nonsystematic narrative review of the literature using PubMed to identify current guidelines and recommendations on molecular diagnostic testing for BRCA and/or homologous recombination repair gene alterations (HRRm) in patients with prostate cancer. In addition, selected articles that included BRCA/HRRm testing in clinical trials in metastatic castration-resistant prostate cancer and real-world evidence were also evaluated. Websites for relevant societies were reviewed for molecular diagnostic guidelines not published on PubMed.Our review of guidelines published by several international societies that include molecular testing in prostate cancer identified variations in molecular testing approaches. The review of testing approaches used in clinical trials and real-world settings also highlighted several aspects that require improvement. Therefore, we compiled practical guidance for establishing an appropriate BRCA/HRR mutation testing pathway.While there are several challenges to molecular testing and interpretation of test results that require enhancement, a multidisciplinary team approach will empower HCPs and their institutions to improve on or initiate their own molecular testing pathways. This in turn will lead to improvements in management strategies for patients with metastatic prostate cancer, for whom better treatment outcomes is a significant unmet need.Establishing a molecular testing pathway in clinical practice for patients with metastatic castration-resistant prostate cancer will lead to fairer and more equal access to personalised treatments. This should lead to better outcomes, particularly for patients whose disease has spread to other areas of the body.Copyright © 2023 European Association of Urology. Published by Elsevier B.V. All rights reserved.