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Novel pathogenic mutation sites of fumarase genes leading to HLRCC

A gene and subject technology, applied in the field of biomedicine, can solve problems that have not been reported

Pending Publication Date: 2021-06-08
SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Some HLRCC pathogenic mutation sites have been found at present, but the pathogenic mutation sites of the present invention have not been reported

Method used

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  • Novel pathogenic mutation sites of fumarase genes leading to HLRCC
  • Novel pathogenic mutation sites of fumarase genes leading to HLRCC
  • Novel pathogenic mutation sites of fumarase genes leading to HLRCC

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0028] 1. Research objects and methods

[0029] 1. Research object

[0030] The postoperative tissue and blood samples of 765 patients with renal cell carcinoma were obtained from January 2008 to December 2019 at the Department of Urology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine, who underwent nephrectomy for renal cell carcinoma patients, and obtained a complete postoperative Pathological diagnosis report. Tissue samples were fixed with 10% formaldehyde and then embedded in paraffin. Blood samples were collected and stored in -80°C refrigerator after standing still and centrifuged. Informed consent signed by the patients was obtained before all specimens were collected, and the experimental protocol was approved and supervised by the Ethics Committee of Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine.

[0031] 2. Research Methods

[0032] 2.1 H&E cell morphology staining

[0033] H&E staining follows the co...

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PUM

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Abstract

The present invention relates to novel pathogenic mutation sites of fumarase genes leading to hereditary leiomyomatosis and renal cell carcinoma (HLRCC), which comprises p.N154H, p.V156I, p.R160S, p.K414E, p.T474P, p.L207R, p.N415I, p.G280V, and p.G364R. A new molecular biology basis is provided for diagnosis and risk assessment of the HLRCC, a diagnostic kit of the HLRCC can be developed based on the mutation sites so as to improve the accuracy of clinical diagnosis, and the mutation sites can also be used for risk assessment of the HLRCC so as to facilitate early intervention.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a new pathogenic mutation site of the fumarase gene leading to HLRCC. Background technique [0002] Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, also known as Reed syndrome, is a rare renal cell carcinoma newly named and classified by WHO in 2016 . Clinically, affected individuals present primarily with multiple skin-colored nodules associated with type II papillary renal carcinoma and female-specific multiple uterine fibroids. In several reported HLRCC cohorts, the disease has extensive multiorgan metastases, even in small tumors. Currently, there is no effective cure for HLRCC. The main treatment methods include surgery and drug therapy. For early HLRCC, timely surgical resection is the best treatment, but the prognosis is often poor in the advanced stage. For advanced metastatic HLRCC, which cannot be surgically removed, traditional TKI (pazopa...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886G01N33/574G01N33/573
CPCC12Q1/6886G01N33/57407G01N33/57438G01N33/57484G01N33/573C12Q2600/156C12Q2600/118C12Q2600/136G01N2333/988
Inventor 郑亮张进徐云泽伍小宇
Owner SHANGHAI CHILDRENS MEDICAL CENT AFFILIATED TO SHANGHAI JIAOTONG UNIV SCHOOL OF MEDICINE
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