PDF(Pubmed)
Abstract：
UNASSIGNED: Testicular germ cell tumors (TGCTs) are the most common young male malignancy with a steadily rising incidence. Standard clinical practice is radical orchidectomy of suspicious lumps followed by histopathological diagnosis and tumor subtyping. This practice can lead to complications and quality of life issues for the patients. Liquid biopsies, especially cell-free DNA (cfDNA), promised to be true surrogates for tissue biopsies, which are considered dangerous to perform in cases of testicular tumors. In this study, we have performed a systematic review on the potential of cfDNA in TGCT patient management, its potential challenges in translation to clinical application and possible approaches in further research.
UNASSIGNED: The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines on EuropePMC and PUBMED electronic databases, with the last update being on October 21, 2021. Due to the high heterogeneity in identified research articles, we have performed an overview of their efficacy.
UNASSIGNED: Eight original articles have been identified on cfDNA in TGCT patients published from 2004 to 2021, of which six had more than one TGCT patient enrolled and were included in the final analysis. Three studies investigated cfDNA methylation, one has investigated mutations in cfDNA, two have investigated cfDNA amount, and one has investigated cfDNA integrity in TGCT. The sensitivity of cfDNA for TGCT was found to be higher than in serum tumor markers and lower than miR-371a-3p, with comparable specificity. cfDNA methylation analysis has managed to accurately detect teratoma in TGCT patients.
UNASSIGNED: Potential challenges in cfDNA application to TGCT patient management were identified. The challenges relating to the biology of TGCT with its low mutational burden and low cfDNA amounts in blood plasma make next-generation sequencing (NGS) methods especially challenging. We have also proposed possible approaches to help find clinical application, including a focus on cfDNA methylation analysis, and potentially solving the challenge of teratoma detection.
UNASSIGNED: The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines on EuropePMC and PUBMED electronic databases, with the last update being on October 21, 2021. Due to the high heterogeneity in identified research articles, we have performed an overview of their efficacy.
UNASSIGNED: Eight original articles have been identified on cfDNA in TGCT patients published from 2004 to 2021, of which six had more than one TGCT patient enrolled and were included in the final analysis. Three studies investigated cfDNA methylation, one has investigated mutations in cfDNA, two have investigated cfDNA amount, and one has investigated cfDNA integrity in TGCT. The sensitivity of cfDNA for TGCT was found to be higher than in serum tumor markers and lower than miR-371a-3p, with comparable specificity. cfDNA methylation analysis has managed to accurately detect teratoma in TGCT patients.
UNASSIGNED: Potential challenges in cfDNA application to TGCT patient management were identified. The challenges relating to the biology of TGCT with its low mutational burden and low cfDNA amounts in blood plasma make next-generation sequencing (NGS) methods especially challenging. We have also proposed possible approaches to help find clinical application, including a focus on cfDNA methylation analysis, and potentially solving the challenge of teratoma detection.
摘要：
■睾丸生殖细胞肿瘤（TGCT）是最常见的年轻男性恶性肿瘤，发病率稳步上升。标准的临床实践是对可疑肿块进行根治性睾丸切除术，然后进行组织病理学诊断和肿瘤亚型分型。这种做法可能导致并发症和患者的生活质量问题。液体活检,特别是无细胞DNA(cfDNA),承诺是组织活检的真正替代品，在睾丸肿瘤的情况下被认为是危险的。在这项研究中,我们对cfDNA在TGCT患者管理中的潜力进行了系统评价，它在转化为临床应用方面的潜在挑战以及进一步研究的可能方法。
■审查是根据EuropePMC和PUBMED电子数据库的系统审查和荟萃分析（PRISMA）指南的首选报告项目进行的。最后一次更新是2021年10月21日。由于已确定的研究文章的高度异质性，我们对其疗效进行了概述.
■从2004年到2021年，已经确定了八篇关于TGCT患者cfDNA的原始文章，其中六篇有超过一名TGCT患者入选，并被纳入最终分析。三项研究调查了cfDNA甲基化，有人调查了cfDNA的突变，两人调查了cfDNA的数量，并且已经研究了TGCT中的cfDNA完整性。cfDNA对TGCT的敏感性高于血清肿瘤标志物，低于miR-371a-3p。具有可比的特异性。cfDNA甲基化分析已成功准确检测TGCT患者的畸胎瘤。
■确定了cfDNA应用于TGCT患者管理的潜在挑战。与TGCT的生物学相关的挑战具有低突变负荷和血浆中的低cfDNA量,使得下一代测序(NGS)方法尤其具有挑战性。我们还提出了可能的方法来帮助找到临床应用，包括关注cfDNA甲基化分析，并有可能解决畸胎瘤检测的挑战。
■审查是根据EuropePMC和PUBMED电子数据库的系统审查和荟萃分析（PRISMA）指南的首选报告项目进行的。最后一次更新是2021年10月21日。由于已确定的研究文章的高度异质性，我们对其疗效进行了概述.
■从2004年到2021年，已经确定了八篇关于TGCT患者cfDNA的原始文章，其中六篇有超过一名TGCT患者入选，并被纳入最终分析。三项研究调查了cfDNA甲基化，有人调查了cfDNA的突变，两人调查了cfDNA的数量，并且已经研究了TGCT中的cfDNA完整性。cfDNA对TGCT的敏感性高于血清肿瘤标志物，低于miR-371a-3p。具有可比的特异性。cfDNA甲基化分析已成功准确检测TGCT患者的畸胎瘤。
■确定了cfDNA应用于TGCT患者管理的潜在挑战。与TGCT的生物学相关的挑战具有低突变负荷和血浆中的低cfDNA量,使得下一代测序(NGS)方法尤其具有挑战性。我们还提出了可能的方法来帮助找到临床应用，包括关注cfDNA甲基化分析，并有可能解决畸胎瘤检测的挑战。
