接受新一代测序检测的乳腺癌患者的治疗及选择治疗的原因。

IF 1.8 3区 医学 Q3 ONCOLOGY
Oncology Pub Date : 2025-02-04 DOI:10.1159/000543732
Rumi Nishimura, Kazuki Sudo, Rui Kitadai, Asuka Kawachi, Munehiro Ito, Mai Hoshino, Shosuke Kita, Ayumi Saito, Yuki Kojima, Aiko Maejima, Emi Noguchi, Hitomi S Okuma, Takafumi Koyama, Tatsunori Shimoi, Kan Yonemori
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引用次数: 0

摘要

新一代测序(NGS)在临床实践中广泛应用于根据基因组信息来决定治疗方案。这项研究是在日本的一个癌症中心进行的,以优化基于乳腺癌基因改变的可操作基因谱和治疗的比例。方法:通过回顾其电子病历,对2019年8月至2023年12月在日本某癌症中心报告NGS结果的乳腺癌患者进行回顾性调查。患者使用OncoGuideTM NCC oncoppanel System、FoundationOne®CDx或FoundationOne®Liquid CDx进行检查。根据日本三个肿瘤学相关协会的指南,增加了每种基因改变的药物推荐证据水平。“可操作的改变”是指那些证据水平为A-D的改变,包括高微卫星不稳定性和高肿瘤突变负担状态。“使用推荐药物的患者”(已批准的、正在研究的和标签外药物)被定义为那些由分子肿瘤委员会选择的患者。结果:在106例患者中,54例使用了NCC Oncopanel系统,50例使用了FoundationOne CDx。最常见的改变是TP53突变(52.8%)和PIK3CA突变(31.1%)。在56例使用推荐药物的患者(52.8%)中,11例(10.4%)接受了基因组匹配治疗,只有3例(2.8%)参加了临床试验。不接受基因组匹配治疗的最常见原因是患者因个人原因拒绝,尽管有临床试验(18例患者)。结论:患者未接受推荐的基因组匹配治疗的首要原因是与患者相关的因素,包括多次治疗高于临床试验资格标准,以及身体状况不佳。大多数患者在NGS之前接受了四种或更多的细胞毒性化疗方案。在日本,NGS只能在治疗后期使用,这将对乳腺癌的治疗构成一个问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Treatment and Reasons for Choosing Treatment in Breast Cancer Patients Who Underwent Next-Generation Sequencing Test.

Introduction: Next-generation sequencing (NGS) is commonly used in clinical practice to decide treatment based on genomic information. This study was performed to optimize the proportion of actionable gene profiling and treatment based on genetic alterations in breast cancer at one of the cancer centers in Japan.

Methods: Patients with breast cancer who reported NGS results at one of the cancer centers in Japan from August 2019 to December 2023 were retrospectively investigated by reviewing their electronic medical records. Patients were examined using the OncoGuide™ NCC Oncopanel System, FoundationOne® CDx, or FoundationOne® Liquid CDx. The evidence levels for drug recommendation were added for each gene alteration according to the guidelines from three Japanese oncology-related societies. "Actionable alterations" were those at evidence levels A-D, including high microsatellite instability and high tumor mutation burden status. "Patients with recommended drug" (approved, investigational, and off-label drugs) were defined as those who were selected by the Molecular Tumor Board.

Results: Of the 106 patients, 54 were tested using the NCC Oncopanel System and 50 using FoundationOne CDx. The most frequent alterations were TP53 mutations (52.8%) and PIK3CA mutations (31.1%). Of the 56 patients (52.8%) with recommended drugs, 11 (10.4%) received genome-matched therapy and only three (2.8%) participated in clinical trials. The most common reason for not receiving genome-matched therapy was patient refusal for personal reasons, although clinical trials were available (18 patients).

Conclusion: The top reasons for patients not receiving the recommended genome-matched therapy were factors related to the patient, including a number of prior treatments higher than what was allowed by the eligibility criteria of the clinical trials, and poor physical condition. Most patients received four or more regimens of cytotoxic chemotherapy before NGS. NGS is only available at the late phase of treatment in Japan, which would constitute a problem for the treatment of breast cancer.

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来源期刊
Oncology
Oncology 医学-肿瘤学
CiteScore
6.00
自引率
2.90%
发文量
76
审稿时长
6-12 weeks
期刊介绍: Although laboratory and clinical cancer research need to be closely linked, observations at the basic level often remain removed from medical applications. This journal works to accelerate the translation of experimental results into the clinic, and back again into the laboratory for further investigation. The fundamental purpose of this effort is to advance clinically-relevant knowledge of cancer, and improve the outcome of prevention, diagnosis and treatment of malignant disease. The journal publishes significant clinical studies from cancer programs around the world, along with important translational laboratory findings, mini-reviews (invited and submitted) and in-depth discussions of evolving and controversial topics in the oncology arena. A unique feature of the journal is a new section which focuses on rapid peer-review and subsequent publication of short reports of phase 1 and phase 2 clinical cancer trials, with a goal of insuring that high-quality clinical cancer research quickly enters the public domain, regardless of the trial’s ultimate conclusions regarding efficacy or toxicity.
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