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综合基因组分析(CGP)在实际临床实践中的可行性

Feasibility of Comprehensive Genomic Profiling (CGP) in Real-Life Clinical Practice.

作者信息

Nibid Lorenzo, Sabarese Giovanna, Righi Daniela, Rossi Silvia Maria, Merlini Giorgia, Crucitti Pierfilippo, Vincenzi Bruno, Tonini Giuseppe, Perrone Giuseppe

机构信息

Research Unit of Anatomical Pathology, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21-00128 Roma, Italy.

Anatomical Pathology Operative Research Unit, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, 200-00128 Roma, Italy.

出版信息

Diagnostics (Basel). 2023 Feb 19;13(4):782. doi: 10.3390/diagnostics13040782.

Abstract

In advanced or metastatic settings, Comprehensive Genomic Profiling (CGP) allows the evaluation of thousands of gene alterations with the goal of offering new opportunities for personalized treatment in solid tumors. This study evaluated the CGP in a real-life cohort of 184 patients enrolled in a prospective clinical trial. CGP data were compared with the routine molecular testing strategy adopted in-house. Sample age, tumor area, and the percentage of tumor nuclei were recorded for CGP analysis. We found that 150/184 (81.5%) samples resulted in satisfying CGP reports. The CGP was higher in samples from surgical specimens (96.7%) and in specimens that had been stored (sample age) for less than six months (89.4%). Among the inconclusive CGP reports, 7/34 (20.6%) were optimal samples, according to CGP sample requirements. Moreover, with the in-house molecular testing approach, we could obtain clinically relevant molecular data in 25/34 (73.5%) samples that had inconclusive CGP reports. In conclusion, despite the fact that CGP offers specific therapeutical options in selected patients, our data suggest that the standard molecular testing strategy should not be replaced in routine molecular profiling.

摘要

在晚期或转移性肿瘤的情况下,综合基因组分析(CGP)能够评估数千种基因改变,目的是为实体瘤的个性化治疗提供新的机会。本研究在一项前瞻性临床试验纳入的184例患者的真实队列中评估了CGP。将CGP数据与内部采用的常规分子检测策略进行比较。记录用于CGP分析的样本年龄、肿瘤面积和肿瘤细胞核百分比。我们发现150/184(81.5%)的样本产生了令人满意的CGP报告。手术标本的样本(96.7%)以及储存(样本年龄)少于6个月的标本(89.4%)的CGP质量更高。在不确定的CGP报告中,根据CGP样本要求,7/34(20.6%)为最佳样本。此外,采用内部分子检测方法,我们能够在25/34(73.5%)CGP报告不确定的样本中获得临床相关的分子数据。总之,尽管CGP为特定患者提供了特定的治疗选择,但我们的数据表明,在常规分子分析中不应取代标准分子检测策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40ae/9955416/ba9690069c52/diagnostics-13-00782-g001.jpg

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