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基因突变检测:巴西分子检测模式的改变。

Mutation Testing: Changing Patterns of Molecular Testing in Brazil.

机构信息

Department of Medicine, Miller School of Medicine and Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida, USA

Hospital das Clínicas Instituto do Coração, São Paulo, Brazil.

出版信息

Oncologist. 2019 Apr;24(4):e137-e141. doi: 10.1634/theoncologist.2018-0254. Epub 2018 Nov 16.

Abstract

BACKGROUND

In Brazil, cancer is the second most common cause of death. Most patients in resource-limited countries are diagnosed in advanced stages. Current guidelines advocate for mutation testing in all patients with metastatic adenocarcinoma. Tyrosine kinase inhibitors are recommended in patients with advanced or metastatic disease harboring sensitizing mutations. In Brazil, there are limited data regarding the frequency of testing and the changes in patterns of testing overtime.

MATERIALS AND METHODS

This was an observational, retrospective study. We obtained deidentified data from a commercial database, which included 11,684 patients with non-small cell lung cancer treated between 2011 and 2016 in both public and private settings. We analyzed the frequency of mutation testing over time. We also directly studied 3,664 tumor samples, which were analyzed between 2011 and 2013. These samples were tested for mutations through an access program to tyrosine kinase inhibitors in Brazil.

RESULTS

Overall, 38% of patients were tested for mutations; 76% of them were seen in the private sector, and 24% were seen in the public center. The frequency of testing for mutations increased significantly over time: 13% (287/2,228 patients) in 2011, 34% (738/2,142) in 2012, 39% (822/2,092) in 2013, 44% (866/1,972) in 2014, 53% (1,165/2,184) in 2015, and 42% (1,359/3,226) in 2016. mutations were detected in 25.5% of analyzed samples (857/3,364). Deletions in Exon 19 were the most frequent mutations, detected in 54% of patients (463/857).

CONCLUSION

Our findings suggest that the frequency of mutation in this cohort was lower than that found in Asia but higher than in North American and Western European populations. The most commonly found mutations were in Exon 19 and Exon 21. Our study shows that fewer than half of patients are being tested and that the disparity is greater in the public sector.

IMPLICATIONS FOR PRACTICE

These data not only indicate the shortage of testing but also show that the rates of positivity in those tested seem to be higher than in other cohorts for which data have been published. This study further supports the idea that awareness and access to testing should be improved in order to improve survival rates in lung cancer in Brazil.

摘要

背景

在巴西,癌症是第二大常见死因。大多数资源有限国家的患者都处于晚期诊断阶段。目前的指南主张对所有转移性腺癌患者进行 突变检测。在患有晚期或转移性疾病且携带敏感突变的患者中,推荐使用酪氨酸激酶抑制剂。在巴西,关于 检测的频率以及随着时间的推移检测模式的变化,数据有限。

材料和方法

这是一项观察性、回顾性研究。我们从一个商业数据库中获得了去识别数据,该数据库包括 2011 年至 2016 年期间在公共和私人环境中治疗的 11684 例非小细胞肺癌患者。我们分析了随着时间的推移 突变检测的频率。我们还直接研究了 3664 个肿瘤样本,这些样本是在 2011 年至 2013 年间进行分析的。这些样本通过巴西酪氨酸激酶抑制剂的准入计划进行了 突变检测。

结果

总体而言,38%的患者接受了 突变检测;其中 76%在私营部门,24%在公共中心。随着时间的推移, 突变检测的频率显著增加:2011 年为 13%(287/2228 例),2012 年为 34%(738/2142 例),2013 年为 39%(822/2092 例),2014 年为 44%(866/1972 例),2015 年为 53%(1165/2184 例),2016 年为 42%(1359/3226 例)。在分析的 3664 个样本中,检测到 25.5%(857/3364)的 突变。外显子 19 缺失是最常见的突变,在 54%的患者中(463/857)发现。

结论

我们的研究结果表明,该队列中 突变的频率低于亚洲,但高于北美和西欧人群。最常见的突变发生在外显子 19 和外显子 21。我们的研究表明,接受检测的患者不到一半,而且在公共部门的差距更大。

实践意义

这些数据不仅表明检测不足,还表明在已发表数据的其他队列中,接受检测的患者的阳性率似乎更高。本研究进一步支持这样一种观点,即应提高对检测的认识和获取,以提高巴西肺癌患者的生存率。

相似文献

1
Mutation Testing: Changing Patterns of Molecular Testing in Brazil.基因突变检测:巴西分子检测模式的改变。
Oncologist. 2019 Apr;24(4):e137-e141. doi: 10.1634/theoncologist.2018-0254. Epub 2018 Nov 16.

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Lung cancer in Brazil: epidemiology and treatment challenges.巴西的肺癌:流行病学与治疗挑战
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