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Application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection

A pituitary adenoma, gene technology, applied in the field of biomedicine

Pending Publication Date: 2017-02-22
AFFILIATED HUSN HOSPITAL OF FUDAN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There are currently no specific molecular diagnostic markers to differentiate them

Method used

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  • Application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection
  • Application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection
  • Application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0078] In this embodiment, 125 patients with pituitary adenomas diagnosed in Neurosurgery of Huashan Hospital from 2010 to 2015 were selected for enrollment (including 20 cases of non-functional type, 20 cases of PRL type, 20 GH type, 20 cases of ACTH type, and 20 cases of GT type). type, 10 cases of TSH type mixed type), whole exome sequencing was performed on patients with all 7 subtypes, the mutation gene spectrum was obtained, and candidate genes were screened through function prediction. Each patient had not received surgery, radiotherapy or drug treatment before operation, and each patient had a clear preoperative diagnosis and confirmed by postoperative pathology. All enrolled patients signed an informed consent form, and this study was approved by the Medical and Research Ethics Committee of Huashan Hospital.

[0079] Transsphenoidal endoscopic pituitary adenoma resection

[0080] After a definite diagnosis, all patients underwent transsphenoidal endoscopic resection ...

Embodiment 2

[0103] Embodiment 2 pituitary adenoma detection kit

[0104] Based on the correlation between the mutation site of the present invention and pituitary adenoma, primers for the mutation site in the above table 1 were designed using conventional methods in the art, and the DNA of the patient's blood sample was used as a template to amplify and detect . The prepared detection kit contains the above primers and PCR reaction solution.

Embodiment 3

[0105] Example 3 Auxiliary detection of pituitary adenoma susceptibility

[0106] Using the kit and the general method in Example 2, 500 samples of patients known to have pituitary adenoma and 500 samples of patients without pituitary adenoma were randomly selected. The two groups of samples were mixed, and using a random double-blind method, the presence of the mutation site was detected in all samples, and the results were compared with samples known to have the disease.

[0107] The test results showed that 312 samples contained the mutation site of the present invention, and 277 of them were from subjects with pituitary adenoma.

[0108] It can be seen that the mutation site of the present invention has a very strong correlation with pituitary adenoma, and the use of the mutation site can effectively diagnose, predict and evaluate pituitary adenoma or its susceptibility.

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Abstract

The invention provides application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection. Specifically, the invention provides a type of specific gene mutations in patients suffering from pituitary adenoma. The experimental result proves that the patients suffering from pituitary adenoma can be diagnosed by detecting the gene mutations.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to the application of specific gene mutations in the detection of pituitary adenomas in molecular diagnosis and targeted therapy. Background technique [0002] Pituitary adenomas are the most common neuroendocrine tumors in humans and one of the most common brain tumors. Functional pituitary adenomas can abnormally secrete hormones, leading to infertility, acromegaly, Cushing syndrome, hyperthyroidism and other significant endocrine disorders in patients, which in turn seriously damage the functions of important organs such as the heart, liver and kidney. The onset of pituitary adenoma is hidden and the growth is slow. When the patient presents clinical symptoms and goes to see a doctor, the tumor is often huge in size or invasive in growth, oppressing the adjacent important anatomical structures, resulting in hypopituitarism, binocular vision loss and cranial nerve palsy. Symptoms such ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68G01N33/574A61K45/00A61P35/00
CPCA61K45/00G01N33/57407C12Q1/6886C12Q2600/156
Inventor 赵曜师咏勇阎海宋智健马增翼陈剑华张启麟叶钊黄传新王镛斐李士其
Owner AFFILIATED HUSN HOSPITAL OF FUDAN UNIV
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