Next-generation sequencing in thymic epithelial tumors uncovered novel genomic aberration sites and strong correlation between TMB and MSH6 single nucleotide variations.
Thymic epithelial tumors (TET) including thymomas and thymic carcinomas are rare, but they are common primary tumors in the anterior mediastinum. The etiology and tumorigenesis of TET remain unclear. To better understand the novel aberrations of this rare tumor and provide more significant mutation sites for targeted therapy, we performed next-generation sequencing detection on 55 patients with TET. Our results showed that most genes in 12 core pathways harbored aberrations of indeterminate potential. In 4 genes (ARID1A, KMT2C, TGFBR2 and MAP3K1), the indel frequency was above 90%. Dozens of genes, including TGFBR2, KMT2C, PRKDC, ATR, CHD2, SDHA, KDM5A, CHEK1, MSH6 and POLE, possessed frameshift indel with different frequencies in different hotspot sites, which could be the new targets of therapy for TET. For the first time, we revealed a strong correlation between the tumor mutational burden and single nucleotide variations, but not frameshift, on DNA mismatch repair gene MSH6 in TET.
['Chen|Kai|K|', 'Che|Jiaming|J|', 'Zhang|Xianfei|X|', 'Jin|Runsen|R|', 'Xiang|Jie|J|', 'Han|Dingpei|D|', 'Sun|Yonghua|Y|', 'Gong|Ziying|Z|', 'Zhang|Daoyun|D|', 'Li|Hecheng|H|']
D000328:Adult D000368:Aged D000369:Aged, 80 and over D014408:Biomarkers, Tumor D004268:DNA-Binding Proteins D005260:Female D005500:Follow-Up Studies D015972:Gene Expression Regulation, Neoplastic D059014:High-Throughput Nucleotide Sequencing D006801:Humans D008297:Male D008875:Middle Aged D009154:Mutation D009375:Neoplasms, Glandular and Epithelial D020641:Polymorphism, Single Nucleotide D011379:Prognosis D013953:Thymus Neoplasms
Thymomas Thymic carcinomas Mutation Pathway Indel Survival