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Molecular mutation prediction model, method and system for distant metastasis of thyroid papillary carcinoma

A technology for papillary carcinoma and distant metastasis, applied in the field of biomedicine, can solve the problem of little research on the molecular mechanism of distant metastasis of papillary thyroid carcinoma, and achieve high specificity, high accuracy and high sensitivity

Active Publication Date: 2020-10-16
ZHEJIANG CANCER HOSPITAL
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] There are few studies on the molecular mechanism of distant metastasis of papillary thyroid carcinoma, and most of the existing literature reports and TCGA data are the data of patients without metastasis or lymph node metastasis

Method used

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  • Molecular mutation prediction model, method and system for distant metastasis of thyroid papillary carcinoma
  • Molecular mutation prediction model, method and system for distant metastasis of thyroid papillary carcinoma
  • Molecular mutation prediction model, method and system for distant metastasis of thyroid papillary carcinoma

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Embodiment 1

[0037] Example 1 Sample selection and process

[0038]One aspect of the research of the present invention is to explore the molecular mechanism of distant metastasis of thyroid papillary carcinoma and the relationship between molecular level variation and clinical traits related to the degree of deterioration. In this batch, a total of 66 primary tumor samples from patients with papillary thyroid carcinoma were subjected to WES and 425gene panel sequencing at the same time.

[0039] The basic clinical information of the sample source is as follows

[0040]

[0041]

[0042] The core phenotype of patients: no metastasis, lymph node metastasis and distant metastasis.

[0043] WES sequencing was performed on primary papillary thyroid carcinoma tissue (n=66), and the clinical information tables were all based on primary cancer tissue.

[0044] The flow chart of the research design is as figure 1 shown.

[0045] At the same time, WES and 425gene panel detection were perfo...

Embodiment 2W

[0048] Example 2 Basic Information of WES Sequencing

[0049] The sequencing quality of 66 cases of papillary thyroid carcinoma in the embodiment of the present invention: the Q30 ratio is 91%.

[0050] Average sequencing depth: 204X, average sequencing depth after PCR dup removal: 167X (min: 109X, max: 208X), follow-up analysis after PCR dup removal.

[0051] Contamination degree estimation: The sample with the highest degree of contamination was 0.2% contamination rate, which had no effect on call mutations.

[0052] All 66 WES samples passed the quality control and entered the follow-up analysis.

Embodiment 3

[0053] Example 3 Molecular Mechanisms Related to Distant Metastasis of Papillary Thyroid Carcinoma

[0054] Such as image 3 As a result, the present invention found that the gene mutation map of thyroid papillary carcinoma shows that BRAF mutation and gene fusion are mutually exclusive.

[0055] BRAF mutations were mainly concentrated in the non-metastasis and lymph node metastases groups.

[0056] Fusion and SCNA were concentrated in the distant metastases group.

[0057] BRAF mutations and fusions were mutually exclusive (p-value<0.0001).

[0058] Of the 66 patients, 59 (89%) had at least one driver event (BRAF, fusion, TERT driver mutation, or Arm SCNA) found.

[0059] Note: BRAF nonsynonymous mutations are all V600E, TERT promoter mutations and fusions are detected by 425Panel.

[0060] Such as Figure 4 The present invention finds that the analysis results of patients with papillary thyroid carcinoma in the TCGA database are more consistent with the results of this ...

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Abstract

The invention provides a papillary thyroid carcinoma distant metastasis mutation predicting model, a predicting model method and a predicting model system. The papillary thyroid carcinoma distant metastasis mutation predicting model realizes high predicting accuracy which is higher than that of a currently reported model. Furthermore the papillary thyroid carcinoma distant metastasis mutation predicting model has high sensitivity and high specificity. Furthermore researching of the invention proves a fact that TERT starter mutation has no evident correlation with distant metastasis, and furthermore chr22q loss and gene fusion are remarkably correlated with distant metastasis. The samples of the invention are obtained from Chinese people, and foreign researching samples are obtained from the Western country people. Therefore the researching result of the invention has higher application value for the Chinese people.

Description

technical field [0001] The invention belongs to biomedicine, in particular to a tumor detection model. Background technique [0002] Thyroid cancer is the most common malignant tumor of the endocrine system, and it is also the malignant tumor with the fastest growing incidence in recent years. It not only threatens the health of people (especially women), but also greatly increases the burden on the government, society and families. Effective research on the prevention and control of thyroid cancer is a major livelihood issue facing our country. Papillary thyroid carcinoma is the main pathological type of thyroid cancer, accounting for more than 80-90%. The prognosis of papillary thyroid carcinoma varies greatly. Some patients, such as papillary thyroid microcarcinoma without risk factors, have an excellent prognosis. At present, there may be overtreatment, which wastes medical resources; while some patients with papillary thyroid carcinoma, if distant metastasis occurs, is...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B50/00
Inventor 兰霞斌葛明华葛欣阳曹君朱栩杭黄煜庆张启弘刘凯华邵阳
Owner ZHEJIANG CANCER HOSPITAL
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