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液体活检:关于实体瘤中 、 和 突变的重要性及范围的新观点。 (注:原文中部分关键基因名称缺失,以上为根据格式要求的翻译)

Liquid biopsy: Novel perspectives on the importance and spectrum of , and mutations in solid tumors.

作者信息

Sahin Ibrahim, Saat Hanife, Aksoy Sercan, Dizdar Omer, Erdem Haktan Bagis, Bahsi Taha

机构信息

Department of Medical Genetics, University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, 06110 Ankara, Turkey.

Department of Medical Oncology, Hacettepe University Cancer Institute, 06590 Ankara, Turkey.

出版信息

Mol Clin Oncol. 2022 Jan;16(1):1. doi: 10.3892/mco.2021.2434. Epub 2021 Nov 3.

DOI:10.3892/mco.2021.2434
PMID:34824841
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8609516/
Abstract

Many people die from lung and breast cancer. Consequently, both physicians and researchers strive to provide reliable monitoring for disease, diagnosis and prognosis as well as resistance prediction. In the present study, a comprehensive liquid biopsy panel was performed on 474 patients to examine the importance and spectrum of recurrent somatic cancer mutations. Most patients visited the clinic with a diagnosis of advanced resistant cancer. The patients underwent a comprehensive liquid biopsy panel. Patients were divided into four groups based on cancer type as follows: Lung (n=379, 79.9%), breast (n=72, 15.2%), gastrointestinal (n=11, 2.3%) and other (n=12, 2.5%). Tier I-II-III classified variants were included in the study. The mean age was 60 years, with a range of 20-86 years. There were notably more male (n=272, 57.4%) than female patients (n=202, 42.6%). The most commonly mutated genes were , , , , , , and . The most common mutations were ', c.3140A>G, p.His1047Arg', ', c.2324delinsGAC, p.Glu775Glyfs*6', ', c.217G>C, p.Val73Leu', ', c.2155G>A, p.Gly719Ser', , c.1624G>A, p.Glu542Lys', ', c.397G>A, p.Val133Ile' and ', c.2235_2249del, p.Glu746_Ala750del'. The , and variants showed a higher incidence in the breast and lung groups compared with other groups. To the best of our knowledge, the present study is the first to concentrate on , and mutations in the context of breast and lung adenocarcinoma and to evaluate both genetic variability and the effect of treatment. The present results showed that patients with solid tumors, particularly lung and breast cancer, may benefit from , and sequencing to assess clinical characteristics and prognosis. Discoveries regarding the gene structure and mechanisms of , and may inform more clinically meaningful therapeutic approaches for patients with cancer and serve an essential role in improving individual risk prediction, therapy and prognosis.

摘要

许多人死于肺癌和乳腺癌。因此,医生和研究人员都努力为疾病的监测、诊断、预后以及耐药性预测提供可靠的依据。在本研究中,对474例患者进行了全面的液体活检分析,以检查复发性体细胞癌突变的重要性和范围。大多数患者就诊时被诊断为晚期耐药癌症。这些患者接受了全面的液体活检分析。根据癌症类型,患者被分为四组:肺癌组(n = 379,79.9%)、乳腺癌组(n = 72,15.2%)、胃肠道癌组(n = 11,2.3%)和其他组(n = 12,2.5%)。研究纳入了I-II-III级分类变异。患者的平均年龄为60岁,年龄范围在20至86岁之间。男性患者(n = 272,57.4%)明显多于女性患者(n = 202,42.6%)。最常发生突变的基因是 、 、 、 、 、 、 和 。最常见的突变是 、c.3140A>G、p.His1047Arg、 、c.2324delinsGAC、p.Glu775Glyfs*6、 、c.217G>C、p.Val73Leu、 、c.2155G>A、p.Gly719Ser、 、c.1624G>A、p.Glu542Lys、 、c.397G>A、p.Val133Ile和 、c.2235_2249del、p.Glu746_Ala750del。与其他组相比, 、 和 变异在乳腺癌组和肺癌组中的发生率更高。据我们所知,本研究首次聚焦于乳腺癌和肺腺癌背景下的 、 和 突变,并评估了基因变异性和治疗效果。目前的结果表明,实体瘤患者,尤其是肺癌和乳腺癌患者,可能受益于 、 和 测序,以评估临床特征和预后。关于 、 和 的基因结构及机制的发现,可能为癌症患者提供更具临床意义的治疗方法,并在改善个体风险预测、治疗和预后方面发挥重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/89640a76f8a0/mco-16-01-02434-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/545b05baba6b/mco-16-01-02434-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/9a1508c7f1aa/mco-16-01-02434-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/a6c8de456894/mco-16-01-02434-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/89640a76f8a0/mco-16-01-02434-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/545b05baba6b/mco-16-01-02434-g00.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/9a1508c7f1aa/mco-16-01-02434-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/a6c8de456894/mco-16-01-02434-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5a3/8609516/89640a76f8a0/mco-16-01-02434-g03.jpg

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