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Diagnostic marker for upper urinary tract epithelial cancer and application of diagnostic marker

A technology for urothelial carcinoma and diagnostic markers, applied in the field of diagnostic markers for upper urothelial carcinoma, can solve the problems of difficulty in early diagnosis, high misdiagnosis or missed diagnosis rate, and inability to fully meet the needs of clinical diagnosis and treatment, so as to improve the survival rate and quality of life

Pending Publication Date: 2022-03-01
WEST CHINA HOSPITAL SICHUAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The sensitivity and specificity of these diagnostic methods are limited, and the rate of misdiagnosis or missed diagnosis is high
[0009] (2) The existing research level of UTUC biomarkers is single, the types are rare, and the reproducibility is poor. Only relying on single-factor prediction models cannot fully meet the needs of clinical diagnosis and treatment
[0010] (3) Early diagnosis is difficult, and there is a lack of effective molecular diagnostic markers suitable for the Chinese population
[0011] (4) There is a lack of individualized treatment methods in the prior art, and the prognosis of patients in the middle and late stages is extremely poor
[0013] (1) There is heterogeneity in gene expression between individual cells, which is not conducive to the tracking of cell pathological processes and the study of biodiversity

Method used

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  • Diagnostic marker for upper urinary tract epithelial cancer and application of diagnostic marker
  • Diagnostic marker for upper urinary tract epithelial cancer and application of diagnostic marker
  • Diagnostic marker for upper urinary tract epithelial cancer and application of diagnostic marker

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0050] 1. The applicant complied with the requirements of the Preferred Items Report for Systematic Reviews and Meta-analysis (PRISMA) and the Reporting Regulations for Tumor Marker Prognosis Research (REMARK), and comprehensively searched authoritative publications from January 1, 2004 to December 31, 2020 Evidence for epigenetic associations with UTUC in databases (PubMed, The Cochrane Library, EMBASE, Scopus), including DNA methylation. According to the inclusion and exclusion criteria, a total of 11 articles related to DNA methylation were included in the study, of which 8 articles reported 10 genes (GDF15, TMEFF2, VIM, RASSF1A, BRCA1, ABCC6, SALL3, HSPA2, CDH1, THBS1) Epigenetic status in UTUC and its relationship to clinical outcome.

[0051] (See Table 1).

[0052]

[0053]

[0054] 2. The role of methylated genes in UTUC

[0055] ① Diagnostic function

[0056] Among the above 8 studies, 2 studies reported that methylated genes were associated with the diagnosi...

Embodiment 2

[0069] GDF15: growth differentiation factor 15

[0070] mRNA sequence:

[0071] ① NM_0048641200bp mRNA (see SEQ ID NO: 1)

[0072]

[0073] ② Coding region (CDS): 33-959bp

[0074]

[0075]

[0076] TMEFF2: transmembrane protein with EGF like and two follistatin like domains

[0077] mRNA sequence:

[0078] ① NM_0013051342856bp mRNA (see SEQ ID NO: 2)

[0079] ORIGIN

[0080]

[0081]

[0082] ② Coding region (CDS): 410-1450bp

[0083]

[0084]

[0085]

[0086] VIM: vimentin

[0087] mRNA sequence:

[0088] ① NM_0033802154bp mRNA (see SEQ ID NO: 3)

[0089] ORIGIN

[0090]

[0091]

[0092]

[0093] ② Coding region (CDS): 432-1832bp

[0094] ORIGIN

[0095]

[0096]

[0097] The technical effects of the present invention will be described in detail below in conjunction with experiments.

[0098] ①meta-combined analysis results

[0099] GDF15, TMEFF2, and VIM methylation were all associated with recurrence, progression, and c...

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Abstract

The invention belongs to the technical field of biomarkers, and discloses an upper urinary tract epithelium carcinoma (UTUC) diagnostic marker and application thereof, the upper urinary tract epithelium carcinoma diagnostic marker is DNA methylation biomarkers GDF15, TMEFF2 and VIM, the upper urinary tract epithelium carcinoma diagnostic marker is a DNA methylation biomarker, the upper urinary tract epithelium carcinoma diagnostic marker is a DNA methylation biomarker, the upper urinary tract epithelium carcinoma diagnostic marker is a DNA methylation biomarker, the upper urinary tract epithelium carcinoma diagnostic marker is a DNA methylation biomarker, and the upper urinary tract epithelium carcinoma diagnostic marker is a DNA methylation biomarker. The mRNA (messenger ribonucleic acid) sequence NM004864 of the GDF15 is shown as SEQ ID NO: 1; the mRNA (messenger ribonucleic acid) sequence NM001305134 of the TMEFF2 is as shown in SEQ ID NO: 2; the mRNA (messenger ribonucleic acid) sequence NM003380 of the VIM is shown as SEQ ID NO: 3. According to the method, the upper urinary tract epithelium cancer data are comprehensively mined from the multi-omics level, the biomarkers related to the upper urinary tract epithelium cancer are searched, the limitation of a traditional candidate gene method can be overcome, and the result accuracy is improved; clinical data are combined for integrated analysis, multiple biomarkers are jointly detected, a multi-index combined diagnosis model is established, and the diagnosis sensitivity and specificity are improved.

Description

technical field [0001] The invention belongs to the technical field of biomarkers, and in particular relates to a diagnostic marker for upper tract urothelial carcinoma and its application. Background technique [0002] Upper urinary tract urothelial carcinoma (UTUC), including renal pelvis carcinoma and ureteral carcinoma, is a complex urinary system tumor caused by both environmental and genetic factors. , 5-10% of UC), the annual incidence rate is about 2 cases / 100,000 residents. The incidence of UTUC is higher in my country, accounting for about 20-30% of transitional cell carcinomas (TCCs). This may have something to do with the history of aristolochic acid drug exposure as the unique etiology of UTUC patients in my country. Compared with European and American countries, the proportion of women with UTUC in my country is higher than that of men, about 1.3:1. Male UTUC patients have later stages, larger tumors, and a higher proportion of lymph node metastasis. [0003...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886G16B5/00
CPCC12Q1/6886G16B5/00C12Q2600/154C12Q2600/118
Inventor 廖邦华林逸飞林玲黄进
Owner WEST CHINA HOSPITAL SICHUAN UNIV
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