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Gene combination for human tumor grading and application of gene combination

A gene combination and tumor grading technology, applied in the field of gene combination of human tumor grading, can solve the problems of unreliable malignancy grading, lack of external verification, inability to apply, etc., achieving excellent objectivity and reliability, and wide universality. , the effect of improving sequencing depth and accuracy

Pending Publication Date: 2021-11-05
PEKING UNIV FIRST HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the WHO urothelial carcinoma grading system is a purely pathological image classification system, which has the following defects: 1. It needs to be judged according to the personal experience of pathologists, which has a certain degree of subjectivity, and there are huge differences between different pathologists; 2. The actual In operation, the 1973 version of G2 (moderately differentiated) pathology should be judged as high-grade or low-grade urothelial carcinoma in the 2004 version. There are significant differences between different pathologists
However, the existing gene combinations and methods based on next-generation sequencing technology for grading the malignancy of urothelial carcinoma lack external validation, the malignancy grading is unreliable, and cannot be applied clinically. Therefore, it is urgent to find a method based on specific gene detection. Urothelial Carcinoma Malignancy Grading System

Method used

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  • Gene combination for human tumor grading and application of gene combination
  • Gene combination for human tumor grading and application of gene combination
  • Gene combination for human tumor grading and application of gene combination

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0081] Embodiment 1 is used for the gene combination (Panel) of human tumor classification

[0082] The present invention mainly uses Peking University First Hospital urothelial carcinoma exome sequencing high-throughput database for screening, and confirms a gene combination (panel) for grading human tumors, the gene combination includes gene set A, gene fragment Set B and gene fragment set C;

[0083] The gene set A includes: ACVR1B, ATP4B, AZGP1, BRAF, BRCA1, BRCA2, CRYZL1, DCTN1, E2F3, EGFR, ERBB2, ERCC2, ESPL1, FGFR3, FKBP6, GZMM, H3-5, IGLL5, IRF7, METTL24, At least one of MORN5, MTOR, NPY1R, PET100, PIK3CA, PPARG, PTPN11, PTX4, RGPD8, SERPINA12, STAG2 and ZNF141;

[0084]所述的基因片段集B包括:chr1:155289001-155911999、chr1:226259001-226736999、chr8:30515001-30892999、chr8:42065001-43147999、chr9:134612001-135906999、chr11:48509001-55112999、chr14:24768001-105145999 , at least one of chr16:1-73083999, chr18:1-319999 and chr18:15325001-19749999; the position of the gene segment in the ...

Embodiment 2

[0106] Example 2 A method for grading the degree of malignancy and predicting prognosis of human urothelial carcinoma

[0107] This embodiment provides a method for detecting the grade of human tumors, including using the gene panel in Embodiment 1 to grade the malignancy of human urothelial carcinoma and predict the prognosis, and the specific steps are as follows:

[0108] (1) Take urothelial carcinoma tissue and healthy control tissue specimens, the urothelial carcinoma tissue specimens can be urothelial carcinoma cell lines, fresh urothelial carcinoma specimens, frozen urothelial carcinoma specimens or paraffin-embedded urine Urothelial carcinoma specimens; healthy control tissues can be tissues from known healthy people, or paracancerous tissues or peripheral blood from urothelial carcinoma patients themselves. In this embodiment, the paraffin-embedded urothelial carcinoma specimens were selected, and the healthy control tissue was normal paracancerous tissue, DNA was ext...

Embodiment 3

[0114] As an alternative embodiment of Example 2, in the present invention, the genes in the gene combination (panel) in Example 1 are allowed to be selected and recombined to form a new gene combination, and the judging criteria are, from the gene set For the genes selected in A, the gene mutation of at least one of them indicates that the urothelial cancer patients are in the low-risk group; for the gene fragments selected from gene fragment set B, the gene copy number of at least one region decrease, indicating that the patients with urothelial carcinoma are in the low-risk group; for the gene fragments selected from the gene fragment set C, at least one region of the gene copy number increases, indicating that the patients with urothelial carcinoma are in the low-risk group On the contrary, there is no gene mutation or copy number variation in the genes selected in gene set A, and at the same time, there is no copy number reduction in the fragments selected in gene fragment...

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Abstract

The invention relates to the field of tumor grading detection, in particular to a gene combination for human tumor grading and application of the gene combination. The gene combination for human tumor grading is composed of a gene set A, a gene fragment set B and a gene fragment set C. The gene combination for human tumor grading is obtained from high-throughput sequencing data of actual urinary tract epithelial cancer cases of Peking University First Hospital through specific pairing clustering analysis, the data from the real data have higher reliability and credibility, and malignant degree grading and prognosis prediction can be accurately carried out on urinary tract epithelial cancer and pan-cancer.

Description

technical field [0001] The invention relates to the field of tumor grade detection, in particular to a gene combination for human tumor grade and its application. Background technique [0002] Urothelial carcinoma is a common malignant tumor of the urinary system, mainly including bladder cancer, renal pelvis cancer, ureter cancer and urethral cancer. In recent years, the incidence of urothelial carcinoma has been increasing year by year, the most common of which is urothelial carcinoma of the bladder, which ranks fourth among all malignant tumors in men and ninth among all malignant tumors in women bit, and is rising at a rate of about 2.5% per year. The most common symptom of urothelial carcinoma is hematuria, and the main treatment method is comprehensive treatment based on surgery. Transurethral resection of bladder tumors can be used for bladder urothelial carcinoma with low malignancy and early stage, so as to preserve the bladder and improve the quality of life of p...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886
CPCC12Q1/6886C12Q2600/112C12Q2600/118C12Q2600/156C12Q2600/158C12Q2600/178
Inventor 熊耕砚周利群
Owner PEKING UNIV FIRST HOSPITAL
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