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Gene Mutation Analysis in Papillary Thyroid Carcinoma Using a Multi-Gene Panel in China
Qiang Wang1,2, Ning Zhao1, Jun Zhang1
1Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, People's Republic of China.
International Journal of General Medicine
|September 13, 2021
Summary
Ultra-deep sequencing identified low-frequency mutations in papillary thyroid carcinoma (PTC) patients. These genetic findings enable precise targeted therapy for improved patient outcomes.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer.
- Identifying specific gene mutations is crucial for developing effective targeted therapies.
- Low-frequency mutations may play a significant role in PTC development and progression.
Purpose of the Study:
- To detect low-frequency mutations in 57 key genes associated with PTC.
- To identify actionable mutations for precise targeted therapy in PTC patients.
- To evaluate the utility of ultra-deep sequencing in uncovering rare genetic alterations.
Main Methods:
- Ultra-deep sequencing of 57 genes was performed on 144 PTC patients.
- Bioinformatics analysis was employed to detect mutations within the selected gene panel.
- Patient data included those who underwent total thyroidectomy and lymph node dissection.
Main Results:
- A total of 698 mutations were identified across 45 genes in 138 PTC patients.
- High mutation frequencies were observed in the RBM10 (44%) and TERT (43%) genes.
- Specific hotspot mutations, including RBM10:p.E119D and TERT:p.P112fs, were detected.
Conclusions:
- Ultra-deep sequencing of small gene panels is effective in detecting low-frequency mutations in PTC.
- Identification of these mutations can guide the selection of precise targeted therapies.
- This approach holds promise for personalized treatment strategies in thyroid cancer management.
