BRCA testing in metastatic castration-resistant prostate cancer: successes and troubles in a real world setting. An Italian Multicentric study.

IF 4.4 Q1 PATHOLOGY

PATHOLOGICA Pub Date : 2024-10-01 DOI:10.32074/1591-951X-1010

Stefania Tommasi, Claudio Antonio Coppola, Alessandro Caniglia, Brunella Pilato, Francesco Alfredo Zito, Mariantonia Carosi, Elisa Melucci, Beatrice Casini, Andrea Russo, Viviana Gismondi, Gabriella Cirmena, Michele Paudice, Umberto Malapelle, Francesco Pepe, Giancarlo Troncone, Gabriella Fontanini, Rossella Bruno, Pinuccia Faviana, Davide Vacirca, Sergio Vincenzo Taormina, Simona Francesconi, Cecilia Caprera, Matteo Corsi, Sergio Bracarda, Massimo Barberis

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引用次数: 0

Abstract

Objective: Prostate cancer (PCa) is the most common cause of cancer-related deaths in men worldwide. BRCA1/2 genes are reported altered in approximately 1% and 8% of PCa cases, respectively. To date, formalin-fixed paraffin-embedded (FFPE) tissues have a consolidate use in the clinical practice, but with a significant drawback related to DNA/RNA degradation during the pre-analytical process. The purpose of this study is to evaluate the feasibility of detecting BRCA1/2 alterations in DNA extracted from FFPE tissues collected from PCa patients after various years of storage in seven Italian hospitals.

Methods: A total of 241 DNA samples were extracted from FFPE tissue with different storage times (1-12 y) and sequenced with NGS technology. BRCA1/2 evaluability was assessed performing data analysis with a chi-square test to study the impact of the storage time on the DNA degradation.

Results: The data collected showed a strict relation not only between the storage time and the BRCA1/2 evaluability, but even between the storage time and DNA degradation (DIN). Taken together, all the parameters considered decrease with an increase in the storage time.

Conclusions: Excessive FFPE tissues storage time (more than 3 years) can harshly affect DNA analysis and evaluability, hindering the achievement of a result useful in the clinical practice. Hence, it should be considered to perform the analysis as soon as possible to increase the evaluability of the test.

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BRCA在转移性去势抵抗性前列腺癌中的检测：在现实世界中的成功与麻烦。意大利多中心研究。

目的：前列腺癌（PCa）是全球男性癌症相关死亡的最常见原因。据报道，BRCA1/2基因在大约1%和8%的PCa病例中分别发生改变。迄今为止，福尔马林固定石蜡包埋（FFPE）组织在临床实践中得到了巩固的应用，但在分析前过程中存在与DNA/RNA降解相关的重大缺陷。本研究的目的是评估检测BRCA1/2基因改变的可行性，这些DNA是从意大利七家医院的PCa患者保存不同年份的FFPE组织中提取的。方法：从不同保存时间（1 ~ 12 y）的FFPE组织中提取241份DNA样本，采用NGS技术进行测序。对BRCA1/2可评估性进行数据分析，采用卡方检验研究储存时间对DNA降解的影响。结果：收集到的数据表明，不仅储存时间与BRCA1/2可评价性之间存在严格的关系，而且储存时间与DNA降解（DIN）之间也存在严格的关系。综上所述，所有考虑的参数都随着存储时间的增加而减小。结论：FFPE组织储存时间过长（超过3年）会严重影响DNA分析和可评估性，阻碍临床有用结果的获得。因此，应该考虑尽快进行分析，以增加测试的可评估性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

PATHOLOGICA PATHOLOGY-

CiteScore

5.90

自引率

5.70%

发文量

108