Study on the single nucleotide polymorphism and copy number variation of cardiac myxoma
- VernacularTitle:心脏黏液瘤中基因单核苷酸多态性及拷贝数异常的研究
- Author:
Jidan FAN
1
;
Yufeng XIE
1
;
Daliang YAN
1
;
Kaihang WANG
1
;
Pengcheng ZHU
1
Author Information
1. Department of Cardiovascular Surgery, The Affiliated Taizhou People s Hospital of Nanjing Medical University, Taizhou, 225300, Jiangsu, P. R. China
- Publication Type:Journal Article
- Keywords:
Cardiac myxoma;
whole exome sequencing;
single nucleotide polymorphism;
copy number variation;
tumor growth
- From:
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery
2025;32(11):1629-1641
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the single nucleotide polymorphism (SNP) and copy number variation (CNV) of cardiac myxoma to find the SNP sites and CNV events that may play important roles in the occurrence of tumors. Methods The patients with myxoma admitted to our hospital from 2015 to 2019 were randomly selected. The SNP analysis and the CNV test in gene level were performed through whole exome sequencing (WES). The samples were divided into two groups according to the mean size of the tumor: a diameter≤5.7 cm group and a diameter>5.7 cm group. The analysis results were compared between the two groups. Results A total of 14 patients were enrolled, including 8 females and 6 males with a mean age of 61.4 (41-79) years. Thirty-seven cancer-genes with SNP were detected, among which 18 mutated sites had a mutation rate of>10%; and TP53, EP300 and CREBBP played a core binding role in protein-protein interaction-network. The GO enrichment results showed significant differences in the regulation of cell secretion of the mutated genes, and the KEGG enrichment results showed significant differences in the PI3K-AKT and JAK-STAT signaling pathways in the occurrence of myxoma. In addition, 17 new mutation sites of tumor genes with high mutation effect were found in SNP detection. The WES results of 14 samples showed that the CNV events were detected in 120 tumor genes of the samples, 10 of which were included in two tumor databases. The GO enrichment results showed significant differences in the tube development and regulation of cell proliferation, and the KEGG enrichment results showed significant differences in the comprehensive tumor signaling pathway. Statistical differences of ERCC6L and INTS6L in CNV test were found (P=0.030). Conclusion There may be multiple tumor gene site mutations in the process of tumor generation, among which there are multiple core tumor genes such as TP53, EP300 and CREBBP, regulating tumor cells through PI3K-AKT and JAK-STAT signaling pathways and playing an important role in tumor generation. The CNV of ERCC6L and INTS6L genes may be related to tumor growth.
