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Application of USP48 gene mutation in ACTH type pituitary adenoma molecular diagnosis

A technology of pituitary adenoma and gene, applied in the application field of USP48 gene mutation in the molecular diagnosis of ACTH type pituitary adenoma

Active Publication Date: 2018-10-09
SHANGHAI JIAO TONG 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 USP48 gene mutation in ACTH type pituitary adenoma molecular diagnosis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0135] In this example, a total of 22 patients with USP8 wild-type pituitary adenomas (ACTH type) diagnosed in the Department of Neurosurgery of Huashan Hospital from 2010 to 2015 were selected, and whole exome sequencing was performed to obtain the mutation gene spectrum. 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.

[0136] Transsphenoidal endoscopic pituitary adenoma resection

[0137] After a definite diagnosis, all patients underwent transsphenoidal endoscopic resection of pituitary adenomas. If the preoperative tumor location was not clear, neuronavigation was performed during the operation. After successful general anesthesia, the patient is placed in a supine position, with a pillow unde...

Embodiment 2

[0150] Example 2 ACTH pituitary adenoma detection kit

[0151] Based on the correlation between the mutation sites of the present invention and pituitary adenomas, conventional methods in the art were used to design primers for the mutation sites in Table 1 above, and the patient's DNA sample was used as a template for amplification and detection. The prepared detection kit contains the above primers and PCR reaction solution.

[0152] Dozens of primer pairs targeting the USP48 gene were designed, and after screening, the primer pairs with good specificity and high amplification efficiency were finally obtained as follows:

[0153] Primer pair 1:

[0154] F: TGCCTGCTATAATCCTGGAAA (SEQ ID NO. 3)

[0155] R: TCAGCAGAACCTTCTAAGTCTCA (SEQ ID NO. 4)

[0156] Primer pair 2:

[0157] F: CTGGAAAACTGCTTTACCTGGAA (SEQ ID NO. 5)

[0158] R: AGCCCCGCTAAAGAATAAACAAA (SEQ ID NO. 6)

[0159] Primer pair 3:

[0160] F: TGCCTGCTATAATCCTGGAAAACT (SEQ ID NO. 7)

[0161] F: CTCAGCAGAACCTT...

Embodiment 3

[0165] Example 3 Auxiliary detection of pituitary adenoma susceptibility

[0166] Using the kit and the general method in Example 2, 200 samples of patients known to have pituitary adenoma (including 100 patients with ACTH-type pituitary adenoma) and 200 samples 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.

[0167] The test results showed that 18 samples contained the mutation site of the present invention, and it was further confirmed by conventional methods that 15 of them were from subjects suffering from ACTH-type pituitary adenoma.

[0168] It can be seen that the mutation site of the present invention has a very strong correlation with ACTH-type pituitary adenoma, and the use of the mutation site can effectively diagnose, predict and evaluate pituitary adenom...

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Abstract

The invention provides application of USP48 gene mutation in ACTH type pituitary adenoma molecular diagnosis and particularly provides a specific gene mutation in body of a patient with ACTH type pituitary adenoma, i.e. USP48 gene mutation. Experiment results show that, through detection on the USP48 gene mutation, the patient with the ACTH type pituitary adenoma can be diagnosed, and a diagnosisbasis is provided for subsequent specific and targeted treatment. The invention also provides application of such mutation genes as a pituitary adenoma therapeutic target.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to the application of USP48 gene mutation in molecular diagnosis of ACTH type pituitary adenoma. Background technique [0002] Pituitary adenomas are the most common neuroendocrine tumors in the human body and one of the most common brain tumors (the incidence rate is the second). According to its different endocrine characteristics, it can be divided into several subtypes such as prolactin type, growth hormone type, adrenocorticotropic hormone type, thyroid stimulating hormone type, hormone-free type and mixed type. The tumor secretes various hormones abnormally, leading to significant endocrine disorder symptoms such as infertility, acromegaly, Cushing syndrome, and hyperthyroidism. Pituitary tumors are insidious in onset and slow in growth. When patients present with clinical symptoms and go to see a doctor, the tumor is often huge in size and aggressive in growth, oppressing adjace...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C07K14/47G01N33/574A61K45/00A61P35/00
CPCA61K45/00G01N33/57407G01N33/57484C12Q1/6886C07K14/47G01N2333/47C12Q2600/156
Inventor 师咏勇黄传新赵曜陈剑华马增翼宋智建张启麟间学敏彭虹阎海叶钊何文强沈明王镛斐李士其史之峰宋剑平
Owner SHANGHAI JIAO TONG UNIV
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