Specific gene markers for TMT (thyroid malignant tumor) and application of specific gene markers

A technology of gene markers and malignant tumors, applied in the field of specific gene markers

Pending Publication Date: 2019-09-27
JIANGSU UNIV
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, so far, in the exploration and screening of clinical diagnosis of malignant thyroid cancer, especially the characteristic abnormally expressed genes and/or gene specif

Method used

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  • Specific gene markers for TMT (thyroid malignant tumor) and application of specific gene markers
  • Specific gene markers for TMT (thyroid malignant tumor) and application of specific gene markers
  • Specific gene markers for TMT (thyroid malignant tumor) and application of specific gene markers

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Embodiment 1

[0033] The present invention uses the WGCNA package in the R software (version 1.63) to implement various functions of weighted correlation network analysis, including network construction, detection modules, topology characteristic calculation, simulation data, visualization and interfaces with external software. All subsequent operations are performed by the WGCNA software package. The clinicopathological data analyzed in the present invention come from 49 widely distributed clinical sites (USA, NCBI expression profile database), a total of 3789 patients, and a total of 4812 thyroid nodule samples (size>1cm) were evaluated. First, a preprocessing check was performed on the collected data of 4812 thyroid nodule samples to exclude samples with excessive missing values ​​and identify abnormal microarray samples. After preprocessing, Principal Component Analysis (PCA) was applied to retest the quality of the pre-screened data, and then hierarchical clustering was performed on th...

Embodiment 2

[0039] Embodiment 2: Verification of characteristic genes in independent samples

[0040] The inventors verified the expression of 24 genes with independent pathological sample data. Through the cBioPortal Cancer Case Genomics Database ( http: / / www.cbioportal.org / ), query the case data set from papillary thyroid carcinoma (TCGA, Cell 2014) (512 tumor patients, 337 controls). As a result, it was found that, compared with the control group, 17 genes among the 24 genes described in Example 1 showed significantly high expression in tumor patients. The 17 genes are: CCND1, CITED1, CLDN1, CLDN16, FBXO2, FN1, FRMD3, GABRB2, KRT19, LIPH, MDK, PROS1, RXRG, SCEL, SLC34A2, STK32A and TENM1. Figure 14 It is a map of aberrantly expressed signature genes in malignant thyroid tumors, composed of Figure 14 It can be seen that the above 17 genes are significantly highly expressed in tumor tissues.

[0041] To expand the sample size of data validation, a total of 915 thyroid cancers wer...

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Abstract

The invention relates to the field of medical detection, in particular to specific gene markers for TMT (thyroid malignant tumor) and an application of the specific gene markers. On the basis of a weighted gene coexpression network analysis method and by combination with clinical cases, the TMT is specifically correlated with abnormal expression of 17 gene markers and can be taken as a specific gene detection marker set. By means of verification of a large number of independent clinicopathological samples, specific mutation sites of 5 specific genes are further determined as molecular diagnosis markers. The related gene diagnosis marker set has important clinical application value for early molecular accurate diagnosis of the TMT, can be used for preparing a molecular diagnosis kit for detecting malignant thyroid nodules which are indeterminate according to clinical aspiration biopsy cytology, and particularly has important clinical application value for early molecular accurate diagnosis of patients with an uncertain FNAB (fine needle aspiration biopsy) cytology result of malignant thyroid nodules.

Description

technical field [0001] The invention relates to the field of medical detection, in particular to specific gene markers of malignant thyroid tumors and applications thereof. Background technique [0002] Thyroid cancer is one of the most common malignant tumors in the endocrine system, and its incidence is rapidly increasing worldwide. It is very important to establish an accurate early diagnosis method to intervene in the process of thyroid tumors to malignant tumors. At present, fine-needle aspiration biopsy is the most accurate and economical method in the clinical evaluation of thyroid nodules, and is recommended by the American Thyroid Association as a standardized clinical practice. However, in approximately 30% of clinical cases in fine-needle aspiration biopsies, cytology results are significantly inconclusive, and the tested specimens are flagged as indeterminate or suspected malignancy requiring partial or complete thyroidectomy and further follow-up. Histological...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 刘树柏何英英吴丹丹
Owner JIANGSU UNIV
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