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新型DNA血液测试技术检测肺癌患者的突变

  1. DNA
  2. 患者
  3. 机体
  4. 突变
  5. 肺癌
  6. 血液测试

来源:生物谷 2015-04-20 12:02

近日,来自瑞士的科学家们表示,在肺癌患者机体血液中循环的癌症DNA可以为医生们提供重要的突变信息,来帮助医生在患者肿瘤组织不易靶向作用的情况下对癌症疗法进行优化;相关研究为有效利用癌症疗法来靶向作用特殊癌症的突变提供了新的思路。

2015年4月20日 讯 /生物谷BIOON/ --近日,来自瑞士的科学家们表示,在肺癌患者机体血液中循环的癌症DNA可以为医生们提供重要的突变信息,来帮助医生在患者肿瘤组织不易靶向作用的情况下对癌症疗法进行优化;相关研究为有效利用癌症疗法来靶向作用特殊癌症的突变提供了新的思路。

检测肿瘤自身的突变并不总是有可能,然而很多研究都表明,循环在患者机体血液中的肿瘤DNA或许可以提供一些重要的指示信息。这项研究中研究者旨在对比标准方法检测肿瘤和利用血液检测EGFR突变之间的差异。Reck说道,即使肺部肿瘤不能通过支气管窥镜检查或CT引导活检法来发现,是否存在一种可用的方法可以帮助检测EGFR的突变并且可以提供开发超级疗法的思路呢?而且是否血液检测方法可以和金标准法得到同样的结果呢?

本文研究中,研究者对1162份匹配的组织和血液样本进行了检测,结果显示血液检测手段和标准的组织检测方法得到的结果有89%的一致性,而且血液检测可以鉴别出一半的EGFR突变患者,而组织检测的敏感性仅为46%。Rafael Rosell表示,对于癌症患者而言,无细胞的血液DNA检测是一种有效的工具来帮助检测肿瘤组织的遗传改变,相关的研究结果也可以帮助科学家们证实,在几乎一半的肺癌患者血液或血浆中中可以直接检测到其携带的EGFR突变。

本文研究或可帮助改进当前的技术,来进行肺癌患者的EGFR突变敏感性检测;该研究也为后期进行更为深入的研究来扩展检测突变的常规应用,比如EGFR突变可以作为治疗癌症患者的一部分。(生物谷Bioon.com)

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The results have important implications for the use of cancer therapies that target specific cancer mutations, explains Dr Martin Reck from the Department of Thoracic Oncology at Lung Clinic Grosshansdorf, Germany, who presented the findings at the conference.

Testing for the presence of these mutations in the tumour itself is not always possible, however studies have suggested that DNA from the tumour that circulates in the bloodstream of patients may provide similar information.

The large international ASSESS study aimed to compare the ability of blood testing to detect EGFR mutations with the more standard method of testing the tumour itself.

"We were really asking a question on behalf of patients," Reck said: "Is there a valid test that can identify an EGFR mutation and give me the opportunity for superior treatment, even if my lung tumour is not accessible for bronchoscopy or CT-guided biopsy? And, are the results of this blood test in agreement with the results of the 'gold-standard' tissue test?"

Overall, the study included 1162 matched tissue and blood samples. Comparison of the outcomes of EGFR testing in the two techniques showed an 89% rate of agreement between the blood test and tissue test. Plasma testing identified about half of the patients with EGFR mutations, compared to tissue testing (a sensitivity of 46%).

The tests in this study were not performed in specially selected central labs, but in local labs that are used for daily clinical routine. "This is important, because it does reflect the clinical reality and not a 'virtual' trial reality," Reck said.

"The results mean that for patients who do not have accessible tumour tissue, plasma testing for EGFR mutation turns out to be an attractive option to offer these patients adequate targeted treatment," Reck added.

Commenting on the study, Dr Rafael Rosell, from the Catalan Institute of Oncology, Barcelona, Spain, expert on the ESMO Faculty on Lung cancer, said: "Cell-free DNA detected in the bloodstream of cancer patients represents an excellent tool to examine genetic alterations that are usually found through tumour tissue testing. This represents one of the most astonishing phenomena in biology."

"The results of this study validate that the presence of EGFR mutations in circulating DNA from plasma or serum (fractions obtained from whole blood) can be detected in around half of the patients."

Already, since this study was performed, improvement of techniques have seen the sensitivity of tests for EGFR mutations in circulating tumour DNA increase further, Rosell noted.

"This work paves the way for further studies and expands the routine use of examining mutations such as EGFR mutations as part of cancer patient care," Rosell said.

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