论文已发表
注册即可获取德孚的最新动态
IF 收录期刊
中国人甲状腺乳头状癌基因突变的多基因分析
Authors Wang Q, Zhao N, Zhang J
Received 14 July 2021
Accepted for publication 17 August 2021
Published 2 September 2021 Volume 2021:14 Pages 5139—5148
DOI https://doi.org/10.2147/IJGM.S327409
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Scott Fraser
Purpose: To detect low-frequency mutation in the 57 genes of small panels that are associated with developing thyroid cancer in papillary thyroid carcinoma (PTC) patients and provide patients with precise-targeted therapy.
Patients and Methods: This study included 144 patients diagnosed with PTC who underwent total thyroidectomy and lymph node dissection in the central area of the neck between May 2017 and October 2018. We performed ultra-deep sequencing of 57 genes from 144 patients and detected the 57 genes mutations with bioinformatics.
Results: There were 698 mutations in 45 genes from 138 PTC patients. A high frequency of mutations was detected in the RBM10 gene (44%) and TERT (43%), and some hotspot mutations, such as RBM10:p.E119D and TERT:p.P112fs, were also found.
Conclusion: Ultra-deep sequencing of small gene panels can find some low-frequency mutation genes, which can provide targeted therapy for patients.
Keywords: papillary thyroid carcinoma, thyroid cancer, BRAF, gene panel