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一种针对转移性前列腺癌的患者驱动的临床基因组合作模式。

A patient-driven clinicogenomic partnership for metastatic prostate cancer.

作者信息

Crowdis Jett, Balch Sara, Sterlin Lauren, Thomas Beena S, Camp Sabrina Y, Dunphy Michael, Anastasio Elana, Shah Shahrayz, Damon Alyssa L, Ramos Rafael, Sosa Delia M, Small Ilan K, Tomson Brett N, Nguyen Colleen M, McGillicuddy Mary, Chastain Parker S, He Meng Xiao, Cheung Alexander T M, Wankowicz Stephanie, Tewari Alok K, Kim Dewey, AlDubayan Saud H, Dowdye Ayanah, Zola Benjamin, Nowak Joel, Manarite Jan, Gunn Idola Henry, Olson Bryce, Lander Eric S, Painter Corrie A, Wagle Nikhil, Van Allen Eliezer M

机构信息

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

出版信息

Cell Genom. 2022 Sep 14;2(9). doi: 10.1016/j.xgen.2022.100169. Epub 2022 Aug 19.

DOI:10.1016/j.xgen.2022.100169
PMID:36177448
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9518748/
Abstract

Molecular profiling studies have enabled discoveries for metastatic prostate cancer (MPC) but have predominantly occurred in academic medical institutions and involved non-representative patient populations. We established the Metastatic Prostate Cancer Project (MPCproject, mpcproject.org), a patient-partnered initiative to involve patients with MPC living anywhere in the US and Canada in molecular research. Here, we present results from our partnership with the first 706 MPCproject participants. While 41% of patient partners live in rural, physician-shortage, or medically underserved areas, the MPCproject has not yet achieved racial diversity, a disparity that demands new initiatives detailed herein. Among molecular data from 333 patient partners (572 samples), exome sequencing of 63 tumor and 19 cell-free DNA (cfDNA) samples recapitulated known findings in MPC, while inexpensive ultra-low-coverage sequencing of 318 cfDNA samples revealed clinically relevant amplifications. This study illustrates the power of a growing, longitudinal partnership with patients to generate a more representative understanding of MPC.

摘要

分子特征分析研究已为转移性前列腺癌(MPC)带来了新发现,但这些研究主要在学术医疗机构开展,且涉及的患者群体缺乏代表性。我们设立了转移性前列腺癌项目(MPCproject,mpcproject.org),这是一项患者参与的倡议活动,旨在让美国和加拿大各地的MPC患者参与分子研究。在此,我们展示了与首批706名MPCproject参与者合作的成果。虽然41%的患者合作伙伴生活在农村、医生短缺或医疗服务不足的地区,但MPCproject尚未实现种族多样性,这种差异需要本文详述的新举措来解决。在来自333名患者合作伙伴(572个样本)的分子数据中,对63个肿瘤样本和19个游离DNA(cfDNA)样本进行外显子组测序重现了MPC的已知发现,而对318个cfDNA样本进行的低成本超低覆盖度测序则揭示了具有临床相关性的扩增。这项研究说明了与患者建立不断发展的长期合作关系对于更具代表性地理解MPC的作用。

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本文引用的文献

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Prevalence of Missing Data in the National Cancer Database and Association With Overall Survival.国家癌症数据库中数据缺失的发生率及其与总生存的关系。
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Persistent Disparity: Socioeconomic Deprivation and Cancer Outcomes in Patients Treated in Clinical Trials.
糖皮质激素受体诱导的非肌肉钙调蛋白调节去势抵抗性前列腺癌的转移。
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Genetic alterations in CREBRF influence prostate cancer survival and impact prostate tissue homeostasis in mice.CREBRF基因改变影响前列腺癌患者的生存,并对小鼠前列腺组织内环境稳定产生影响。
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Network-Based Analysis to Identify Drivers of Metastatic Prostate Cancer Using GoNetic.使用GoNetic进行基于网络的分析以识别转移性前列腺癌的驱动因素。
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JAMA. 2020 Nov 17;324(19):1957-1969. doi: 10.1001/jama.2020.20457.
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