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Mature B cell tumor typing marker and application thereof

A B cell and marker technology, applied in the field of biomedicine, can solve problems such as difficulty in subtype diagnosis, and achieve the effect of overcoming the dependence of clinical experience

Active Publication Date: 2022-01-11
GUANGZHOU KINGMED TRANSFORMATIVE MEDICINE INST CO LTD +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0008] Based on this, it is necessary to provide a typing marker for mature B-cell tumors in response to the above problems. Using this typing marker can solve some clinically difficult cases on the basis of cost control and typing diagnosis accuracy. It is of great clinical significance for the subtype diagnosis and stratified precision treatment of mature B cell tumors to assist in the prognosis assessment when the subtype diagnosis is difficult.

Method used

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  • Mature B cell tumor typing marker and application thereof
  • Mature B cell tumor typing marker and application thereof
  • Mature B cell tumor typing marker and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0049] Screening for markers for typing of mature B-cell neoplasms.

[0050] 1. Research and select candidate markers.

[0051] After a comprehensive search and screening in the PubMed database, combined with the inventor's experience in clinical practice, 175 genes related to hematological tumors as shown in the table below were selected as NGS detection panels and preset as model predictors.

[0052] Table 1. Genes associated with hematologic malignancies

[0053]

[0054]

[0055] 2. Data collection and cleaning.

[0056] 1) Conduct a comprehensive search and screening in the COSMIC (the Catalog Of Somatic Mutations In Cancer) database, and collect subtype diagnostic data of cases diagnosed as mature B-cell tumors in the COMSIC database (COMSIC database data collection deadline: 2020.5.20), The results are shown in the table below.

[0057] Table 2. COSMIC database case collection and case retention after variation classification

[0058]

[0059] 2) Collect th...

Embodiment 2

[0089] Model evaluation.

[0090] 1. External data collection.

[0091] 1) Collect subjects' samples (peripheral blood, bone marrow, tissue / lymph nodes, etc.) and subjects' clinical subtype diagnosis data, and the results are shown in the table below.

[0092] Table 4. Case collection and case retention after variation classification

[0093]

[0094] 2) Data acquisition.

[0095] QIAsymphony DSP DNA Mini Kit was used to extract DNA from the subject’s samples, and the QIAGEN QIAseq FX DNA Library Kit was used to construct and purify the library. Based on the 175 genes described in Example 1, NGS was established according to conventional laboratory methods. The detection panel is captured by probe hybridization, and the Illumina Novaseq6000 sequencer is selected as the NGS sequencing platform to obtain the original NGS detection result data of each sample and establish a data set (data set PA);

[0096] Perform variation cleaning and screening of data set PA according to ...

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Abstract

The invention relates to a mature B cell tumor typing marker and application thereof, and belongs to the technical field of biomedicine. The typing marker comprises a combination of at least 16 genes in 175 hematologic tumor related genes, and by adopting the typing marker, on the basis of considering cost control and typing diagnosis accuracy, the situation that subtype diagnosis of partial difficult cases is difficult in clinic can be solved, prognosis evaluation is assisted in the initial diagnosis, and the typing marker has very important clinical significance on typing diagnosis and layered precise treatment of mature B cell tumors.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a type marker for mature B cell tumors and an application thereof. Background technique [0002] Mature B-cell neoplasm is a kind of mature B-cell clonal proliferation disorder, which is the most common and highest incidence subtype of lymphoma, accounting for more than 80% of all lymphoma cases. According to the 2016 World Health Organization classification of hematopoietic and lymphoid tissue tumors, mature B-cell tumors include more than 40 subtypes, and their diagnosis is based on morphology (Morphology), immunology (Immunology), genetics (Cytogenetics) and molecular biology (Molecular biology). biology) typing (MICM typing). Morphology is the gold standard for clinical diagnosis of mature B cell tumor subtypes, while immunology, genetics and molecular biology play an important role in subtype classification, precise treatment and prognosis assessment. [0003] However,...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11G16B20/20G16B20/30G16B30/10G16B40/00
CPCC12Q1/6886G16B20/20G16B20/30G16B30/10G16B40/00C12Q2600/112C12Q2600/156
Inventor 穆亚飞李桂彬蒙裕欢陈禹欣范喜杰王冀黄晓强缪夏萍陈涛陈娜林俊维袁杰铖夏阳宋月彭梓月
Owner GUANGZHOU KINGMED TRANSFORMATIVE MEDICINE INST CO LTD
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