对泌尿学中基因组和生殖细胞系检测的最佳实践的影响
Influencing Best Practices for Genomic and Germline Testing in Urology.
发表日期:2023 Aug 30
作者:
Neal Shore, Takara A Scott, Abhishek Srivastava, Rachel Grove, Angela Thompson, Marni B Tierno, James Haberberger
来源:
Best Pract Res Cl Ob
摘要:
为了评估大型社区泌尿外科设置中的生殖系和体细胞检测实践,并比较组织和液体活检标本的结果,进行了回顾性分析。回顾性分析基于2016年6月至2021年9月期间单个社区医疗机构中晚期前列腺癌患者的临床数据和组织和液体活检标本的测序结果,共涉及389名患者。81份组织标本和74份液体活检标本的基因组数据可用于比较基因组发现,其中包括81份组织标本和27份液体活检标本。从生殖系和体细胞检测中评估了可操作性生物标志物和接受临床试验筛查和入组的患者数量。从组织和液体标本中评估了基因变异的频率、变异类型和生物标志物。将变异频率在前25个变异基因中的标本类型进行比较。
在组织和液体活检标本中,发现了与临床相关的生殖系和体细胞检测结果。微卫星不稳定性高、肿瘤突变负荷高或同源重组修复基因变异的频率与已发表结果一致。组织和液体结果之间的协调性因循环肿瘤DNA较低而有所不同。
生殖系和体细胞检测对治疗决策至关重要,并应成为社区医疗机构的常规护理标准。当循环肿瘤DNA含量较高时,液体活检是可行的替代方法。
To evaluate germline and somatic testing practices and compare results from tissue and liquid biopsy specimens in a large community urology setting.A retrospective analysis was performed on advanced prostate cancer patients from a single community practice between June 2016 and September 2021. Clinical data and sequencing results from tissue and liquid biopsy specimens were available for 389 patients. Genomic data were available for 81 tissues and 74 liquid biopsy specimens. Comparison of genomic findings included 81 tissues and 27 liquid biopsy specimens. The number of actionable biomarkers and patients screened and enrolled in clinical trials was assessed from germline and somatic testing. Frequency of pathogenically altered genes, alteration types, and biomarkers were assessed from tissue and liquid specimens. Alteration frequency was compared between specimen types for the top 25 altered genes.Clinically relevant alterations were found from germline and somatic testing in both tissue and liquid biopsy specimens. The frequency of microsatellite instability-high, tumor mutational burden-high, or alterations in homologous recombination repair genes was consistent with published findings. Concordance between tissue and liquid findings varied with low circulating tumor DNA.Germline and somatic testing is critical for treatment decisions and should be standard of care for community practices. Liquid biopsy is a viable alternative when circulating tumor DNA is high.