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晚期难治性癌症患者的突变图谱及可操作靶点率:一项智利多中心研究经验

Mutational Landscape and Actionable Target Rates on Advanced Stage Refractory Cancer Patients: A Multicenter Chilean Experience.

作者信息

Cordova-Delgado Miguel, Pinto Mauricio P, Regonesi Carlos, Cereceda Luis, Reyes José Miguel, Itriago Laura, Majlis Alejandro, Rodríguez Pablo, Fassler André, Mahave Mauricio, León María Elisa, Gallardo Jorge, Rodríguez Z María Paz, Berkovits Alejandro, Manque Patricio, Ríos Juvenal A, Garcia-Bloj Benjamín, Garrido Marcelo

机构信息

Department of Hematology and Oncology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago 8330032, Chile.

Faculty of Chemical and Pharmaceutical Sciences, Universidad de Chile, Santiago 8380494, Chile.

出版信息

J Pers Med. 2022 Jan 31;12(2):195. doi: 10.3390/jpm12020195.

DOI:10.3390/jpm12020195
PMID:35207683
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8879850/
Abstract

Major advances in sequencing technologies and targeted therapies have accelerated the incorporation of oncology into the era of precision medicine and "biomarker-driven" treatments. However, the impact of this approach on the everyday clinic has yet to be determined. Most precision oncology reports are based on developed countries and usually involve metastatic, hard-to-treat or incurable cancer patients. Moreover, in many cases race and ethnicity in these studies is commonly unreported and real-world evidence in this topic is scarce. Herein, we report data from a total of 202 Chilean advanced stage refractory cancer patients. Retrospectively, we collected patient data from NGS tests and IHC in order to determine the proportion of patients that would benefit from targeted treatments. Overall >20 tumor types were included in our cohort and 37% of patients ( = 74) displayed potentially actionable alterations, including on-label, off-label and immune checkpoint inhibitor recommendations. Our findings were in-line with previous reports such as the cancer genome atlas (TCGA). To our knowledge, this is the first report of its kind in Latin America delivering real-world evidence to estimate the percentage of refractory tumor patients that might benefit from precision oncology. Although this approach is still in its infancy in Chile, we strongly encourage the implementation of mutational tumor boards in our country in order to provide more therapeutic options for advanced stage refractory patients.

摘要

测序技术和靶向治疗的重大进展加速了肿瘤学进入精准医学和“生物标志物驱动”治疗时代。然而,这种方法对日常临床的影响尚未确定。大多数精准肿瘤学报告基于发达国家,通常涉及转移性、难治性或无法治愈的癌症患者。此外,在许多情况下,这些研究中的种族和族裔情况通常未被报告,关于这一主题的真实世界证据也很匮乏。在此,我们报告了总共202例智利晚期难治性癌症患者的数据。我们回顾性地收集了来自NGS检测和免疫组化的患者数据,以确定将从靶向治疗中获益的患者比例。我们的队列中总共纳入了超过20种肿瘤类型,37%的患者(n = 74)显示出潜在可操作的改变,包括标签内、标签外和免疫检查点抑制剂推荐。我们的研究结果与之前的报告如癌症基因组图谱(TCGA)一致。据我们所知,这是拉丁美洲此类的第一份报告,提供了真实世界证据来估计可能从精准肿瘤学中获益的难治性肿瘤患者的百分比。尽管这种方法在智利仍处于起步阶段,但我们强烈鼓励在我国实施肿瘤突变讨论组,以便为晚期难治性患者提供更多治疗选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/2dc3c5232118/jpm-12-00195-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/57d69e0612e3/jpm-12-00195-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/e783b26b400a/jpm-12-00195-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/2dc3c5232118/jpm-12-00195-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/57d69e0612e3/jpm-12-00195-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/e783b26b400a/jpm-12-00195-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e364/8879850/2dc3c5232118/jpm-12-00195-g003.jpg

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本文引用的文献

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Precision Oncology in Solid Tumors: A Longitudinal Tertiary Care Center Experience.实体瘤的精准肿瘤学:一家三级医疗中心的纵向经验
JCO Precis Oncol. 2018 Nov;2:1-11. doi: 10.1200/PO.18.00186.
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Use of Next-Generation Sequencing Tests to Guide Cancer Treatment: Results From a Nationally Representative Survey of Oncologists in the United States.使用新一代测序检测指导癌症治疗:来自美国肿瘤学家全国代表性调查的结果
JCO Precis Oncol. 2018 Nov 13;2. doi: 10.1200/PO.18.00169. eCollection 2018 Nov.
3
Molecular Landscape and Actionable Alterations in a Genomically Guided Cancer Clinical Trial: National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH).
基于基因组的癌症临床试验的分子图谱和可操作的改变:美国国立癌症研究所分子分析用于治疗选择(NCI-MATCH)。
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Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience.通过实施分子肿瘤学委员会实现个性化临床决策:德国单中心经验
JCO Precis Oncol. 2018 Aug 16;2. doi: 10.1200/PO.18.00105. eCollection 2018.
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Spatial and Temporal Heterogeneity of PD-L1 Expression and Tumor Mutational Burden in Gastroesophageal Adenocarcinoma at Baseline Diagnosis and after Chemotherapy.胃食管腺癌初诊时和化疗后 PD-L1 表达和肿瘤突变负荷的空间和时间异质性。
Clin Cancer Res. 2020 Dec 15;26(24):6453-6463. doi: 10.1158/1078-0432.CCR-20-2085. Epub 2020 Aug 20.
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Precision oncology in Latin America: current situation, challenges and perspectives.拉丁美洲的精准肿瘤学:现状、挑战与展望。
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Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature.癌症基因组和外显子测序研究中种族报告:文献的范围综述。
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