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Target genome for gene detection of non-small cell lung cancer patient and related evaluation method, application and kit

A non-small cell lung cancer and gene detection technology, applied in the field of bioinformatics, can solve problems such as expensive, unsatisfactory, and missing the best treatment time, and achieve the effect of avoiding economic burden and low cost

Active Publication Date: 2021-01-22
SHANGHAI ORIGIMED CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0006]However, because the tumor mutation load is to count the mutations of all genes in the cancer tissue, it is necessary to perform whole-genome sequencing on the cancer tissue, which is expensive, even if it is approved by the FDA The only way to test is to cover all exons + introns of key genes (that is, a large panel method including multiple key genes), and because of the large number of genes, the price is still high and unaffordable for patients. The detection time of the whole genome or large panel is also longer, so it is often easy for patients who do not benefit from immunotherapy to miss the best treatment time for other treatment options. Therefore, it is obvious that direct tumor mutation load detection is used to assess the patient’s The benefit of immunotherapy cannot meet the actual situation in application

Method used

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  • Target genome for gene detection of non-small cell lung cancer patient and related evaluation method, application and kit
  • Target genome for gene detection of non-small cell lung cancer patient and related evaluation method, application and kit
  • Target genome for gene detection of non-small cell lung cancer patient and related evaluation method, application and kit

Examples

Experimental program
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Effect test

Embodiment 1

[0026] In this embodiment 1, a solid tumor is used as a sample to be tested, and the prediction of its tumor mutation load is taken as an example for illustration.

[0027] figure 1 It is a flow chart of the method for evaluating the benefit of immunotherapy involved in Example 1 of the present invention.

[0028] like figure 1 As shown, this embodiment 1 provides a method for evaluating the benefit of immunotherapy, the method comprising the following steps:

[0029] Step 1 (S1), assess the necessity of tumor mutation burden detection, specifically:

[0030] Evaluation of the necessity of tumor mutation burden detection in patients with non-small cell lung cancer (NSCLC) based on target genome.

[0031] The genes included in the selected target genome and corresponding descriptions are shown in Table 1.

[0032]

[0033] Design corresponding probes for the target genome, and then based on the designed probes, perform capture sequencing on a sample from a patient with n...

Embodiment 2

[0063] This Example 2 is to demonstrate that the target genome in Example 1 can be used in the assessment of the necessity of tumor mutation burden detection and the assessment of the benefit of immunotherapy in patients with non-small cell lung cancer.

[0064] The verification of Example 2 is based on the sample source information shown in Table 2.

[0065]

[0066] In this example:

[0067] The first step is to use the above-mentioned large panel method to sequence the 291 samples and detect TMB: by constructing a sample DNA sequencing library, and using specific probes to capture and enrich the target region of the library, this process is carried out using a kit ; The captured library can realize one-time detection of multiple mutations of multiple genes through high-throughput sequencing.

[0068] Specifically as follows:

[0069] (1) Using DNA extracted from formalin-fixed paraffin-embedded (FFPE) and blood samples (paired samples) as materials, it was fragmented, ...

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Abstract

The invention provides a target genome for gene detection of a non-small cell lung cancer patient and a related evaluation method, application and kit. The target genome is used for evaluating whetherthe non-small cell lung cancer patient has the necessity of tumor mutation load detection or not, and the target genome comprises the following genes of EGFR, TP53, CDKN2A and SDHA.

Description

technical field [0001] The invention belongs to the field of biological information, and in particular relates to a target genome for gene detection of patients with non-small cell lung cancer and related evaluation methods, uses and kits. Background technique [0002] The advent of next-generation sequencing (NGS) technology has ushered in a new era of precision cancer treatment. NGS can detect hundreds of common cancer-related genes in a single chip, which is not only the first choice for targeted therapy based on tyrosine kinase inhibitors (TKI), but also indispensable for immunotherapy based on immune checkpoint inhibitors (ICI) . [0003] Although targeted therapy has demonstrated for the first time the effectiveness of precision medicine and small molecule inhibitors targeting key driver mutations (such as EML4-ALK fusion or EGFRL858R mutation) in non-small cell lung cancer (NSCLC), and It has proven to be remarkably successful, but resistance usually emerges within ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886G16B20/50
CPCC12Q1/6886G16B20/50C12Q2600/156
Inventor 王凯
Owner SHANGHAI ORIGIMED CO LTD
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