PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-02-01 Epub Date: 2024-03-05 DOI:10.2217/pgs-2023-0238

Francesco Pepe, Konstantinos Venetis, Giulia Cursano, Chiara Frascarelli, Pasquale Pisapia, Davide Vacirca, Claudia Scimone, Alessandra Rappa, Gianluca Russo, Eltjona Mane, Fabio Pagni, Isabella Castellano, Giancarlo Troncone, Carmine De Angelis, Giuseppe Curigliano, Elena Guerini-Rocco, Umberto Malapelle, Nicola Fusco

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引用次数: 0

Abstract

Introduction: PIK3CA gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR⁺/HER2^-) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing PIK3CA status is complex due to selection of biological specimen and testing method. Materials & methods: This work investigates real-life experience on PIK3CA testing in HR⁺/HER2^- MBC. Clinical, technical and molecular data on PIK3CA testing were collected from two referral laboratories. Additionally, the results of a nationwide PIK3CA survey involving 116 institutions were assessed. Results: Overall, n = 35 MBCs were PIK3CA-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for PIK3CA molecular testing in diagnostic routine practice. Conclusion: This study provides insights into the real-world routine of PIK3CA testing in HR⁺/HER2^- MBC and highlights the need for standardization and networking in predictive pathology.

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激素受体阳性/HER2 阴性转移性乳腺癌的 PIK3CA 检测：来自意大利分子病理实验室的真实数据。

导言：在激素受体阳性/HER2-阴性（HR+/HER2-）转移性乳腺癌（MBC）中，约有40%的患者会发生PIK3CA基因突变，从而选择接受靶向治疗。由于生物标本和检测方法的选择，PIK3CA 状态的检测非常复杂。材料与方法：本研究调查了HR+/HER2- MBC中PIK3CA检测的实际经验。从两家转诊实验室收集了有关 PIK3CA 检测的临床、技术和分子数据。此外，还对涉及 116 家机构的全国性 PIK3CA 调查结果进行了评估。结果：总共有35例MBC发生了PIK3CA突变，突变主要发生在9号外显子（19例；51.4%）和20号外显子（15例；40.5%）。全国范围的调查显示，在常规诊断实践中，各实验室在采样方法、技术评估和PIK3CA分子检测的临床报告签署医疗数字方面存在很大差异。结论：该研究深入揭示了HR+/HER2- MBC中PIK3CA检测的实际常规情况，并强调了预测病理学标准化和网络化的必要性。

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

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.