Next-generation Sequencing Technology Research In Malignant Tumors Of The Salivary Glands

Part one Whole-exome sequencing identifies a somatic missense mutation of NBN inclear cell sarcoma of the salivary gland.Objective To investigate the genetic variation in the clear cell sarcoma (CCS) of the salivary gland and to broaden the genotypic spectrum of CCS.Methods Whole exome sequencing analysis was performed on DNA of venous blood and cancer tissue from an affected male to scan for candidate mutations on CC.S. Sanger sequencing was used to verify these candidate mutations in the tumor tissue, matched blood and peritumoral tissue (adjacent non-tumorous tissue). Clinical and pathological examinations were performed on the patients suffered from CCS.Results A combination of whole-exome sequencing and Sanger sequencing of cancer tissue and venous blood from a patient diagnosed with CCS of the salivary gland revealed a somatic missense mutation, c.1061C>T (p.P354L), in exon 9 of the Nibrin gene(NBN).Conclusions We report a somatic missense mutation c.1061C>T (p.P354L) in NBN gene for Chinese patients with CCS without EWSR1-ATF1 fusion. This somatic missense mutation led to the conversion of proline to leucine (p.P354L), resulting in deleterious effects for the NBN protein. Multiple-sequence alignments showed that codon 354, where the mutation (c. 1061 C>T) occurs, is located within a phylogenetically conserved region.Our findings broaden the genotypic spectrum of CCS and provide new molecular insight into future clinical genetic diagnosis for CCS.Part two Study on the genetic mechanism of mucoepidermoid carcinoma with lung metastatic myoepithelial carcinoma by high throughput sequencingObjectiveTo find mucinous epidermoid carcinoma with lung metastatic myoepithelial carcinoma oncogene, combined with immunization library for accurate targeted therapy to provide a site.MethodsSelect the tumor specimens of patients, ? by exon sequencing to find cancerous carcinogenic mutations, and to verify, annotate and mutation function prediction.?Sequential transcripts were used to find differentially expressed genes, and gene function predictions and pathways were recorded. (3) The immune cell markers were identified by immunization library, and the correlation analysis between immunological library and gene mutation was performed. ? through the multi-system bioinformatics analysis, in-depth study of the disease pathogenesis and metastasis, combined with immune library,looking for drug targets.Results?exon sequencing diagnosis, the patient's Driver mutation gene (mutant gene driven) in accordance with the likelihood of cancer are sorted in descending order: WNT3, LNC,CCNE1, LC5A4 like.? The expression of CCNE1 gene was up-regulated from 0.449353809 to 1.411029095 in cancerous tissue. The gene has a specific targeting drug:ALISERTIB.ConclusionCCNE1 gene mutations are likely to be carcinogenic to this case, CCNE1 gene has a specific targeting drug: ALISERTIB.