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Parathyroid carcinoma related gene mutation site and diagnosis product thereof

A parathyroid cancer, mutation site technology, applied in the field of biomedicine, can solve the problems of vascular invasion, surrounding soft tissue invasion, distant metastasis, difficulty, etc., achieve the best treatment effect, promote the development of innovative drugs, and the effect of accurate treatment measures

Inactive Publication Date: 2021-08-06
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, it is difficult to diagnose early PC at present, and the diagnosis mainly depends on clinical metastatic characteristics and pathologically recognized diagnostic criteria, that is, vascular invasion, peripheral nerve, peripheral soft tissue invasion, and distant metastasis, etc.

Method used

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  • Parathyroid carcinoma related gene mutation site and diagnosis product thereof
  • Parathyroid carcinoma related gene mutation site and diagnosis product thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0030] Embodiment 1 sample collection

[0031] From January 2013 to December 2020, the inventor collected a large number of parathyroid cancer tissue and paracancerous tissue specimens at the Peking Union Medical College Hospital of the Chinese Academy of Medical Sciences. After sorting out the sample data, the inventor selected 3 cases that met the following criteria: For standard samples, the corresponding paracancerous tissues were selected as controls for whole exome sequencing. The sample selection criteria were as follows:

[0032] (1) Parathyroid cancer parathyroid samples with definite pathological diagnosis;

[0033] (2) The diagnostic criteria for cancer are based on the WHO tumor classification, requiring metastasis or invasion;

[0034] (3) Exclude cases with too little diseased tissue to provide sufficient research materials.

Embodiment 2

[0035] Example 2 FFPE paraffin sample DNA extraction

[0036] The present invention uses TIANamp FFPE DNA Kit (TIANGEN) to extract DNA from paraffin tissue samples.

[0037] Specific steps are as follows:

[0038] 1. Sample Processing

[0039] Take paraffin sections (5-10μm thick, 1×1cm 2 size) 5-8 sheets.

[0040] 2. Put the paraffin section sample in a 1.5ml sterile centrifuge tube, add 1ml xylene, and vortex vigorously for 10sec.

[0041] 3. Centrifuge at 12,000 rpm (~13,400×g) for 2 minutes at room temperature, and discard the supernatant.

[0042] 4. Add 1ml of absolute ethanol to the above tube, vortex and mix for 10sec.

[0043] 5. Centrifuge at 12,000rpm (~13,400×g) for 2min at room temperature, discard the supernatant

[0044] 6. Leave it at room temperature for 5-10 minutes to fully evaporate the ethanol.

[0045] 7. Add 200 μl buffer GA and 20 μl Proteinase K, mix thoroughly, and incubate at 56°C for 1 hour until the sample is completely lysed.

[0046] 8. I...

Embodiment 3

[0055] Example 3 Whole Exome Sequencing

[0056] 1. Experimental method

[0057] Agilent's liquid chip capture system was used to efficiently enrich the DNA of the whole exon region of human beings, and then perform high-throughput and high-depth sequencing on the Illumina platform. The Agilent SureSelect Human All Exon V6 kit was used for library construction and capture experiments, the reagents and consumables recommended in the instructions were strictly used, and the operation was performed according to the latest experimental procedures.

[0058] The basic process of the experiment: Genomic DNA was randomly broken into fragments with a length of 180-280bp by a Covaris crusher, and after end repair and A-tailing, adapters were connected to both ends of the fragments to prepare a DNA library. The DNA fragment with a specific index tag is hybridized with a biotin-labeled probe in liquid phase, and then the exons on the gene are captured using magnetic beads with streptomyc...

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Abstract

The invention relates to the technical field of biological medicines, in particular to a parathyroid carcinoma related gene mutation site and a diagnosis product thereof. The invention discloses the gene mutation site for diagnosing parathyroid carcinoma and application of the gene mutation site in preparation of a parathyroid carcinoma diagnostic reagent or kit. By adopting the kit prepared by the invention, the accuracy of early diagnosis of clinical parathyroid carcinoma can be improved, so that a patient can obtain more accurate treatment measures, and a better treatment effect is obtained. Meanwhile, a new direction is provided for a drug target for early prevention and treatment of parathyroid carcinoma, and research and development of innovative drugs are promoted.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to gene mutation sites related to parathyroid carcinoma and diagnostic products thereof. Background technique [0002] Primary hyperparathyroidism (PHPT) is usually caused by a parathyroid adenoma and occasionally by primary parathyroid hyperplasia. Parathyroid carcinoma (PC) is a rare cause of PHPT. Other rare causes include parathyroid cysts and non-parathyroid tumors that secrete ectopic parathyroid hormone (PTH). In a study of 22,225 PHPTs from 1995-2003, parathyroid cancer accounted for 0.74% of all cases. Another retrospective study of two European cohorts of PHPT patients showed that the incidence of parathyroid carcinoma ranged from 0.3% to 2.1%. [0003] Although PC has a low incidence, it is the main cause of recurrence and death of PHPT. The only effective treatment is early (before metastasis) radical resection of the tumor at the primary site. However, it is dif...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156C12Q2600/118
Inventor 孙健潘伯驹梁智勇高艺珂郭丹王安琪张子鑫张苗
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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