ObjectiveTo analyze the single nucleotide polymorphism (SNP) and the copy number variation (CNV) of cardiac tumors to find the SNP sites and CNV events that may play important roles in the occurrence of tumors. MethodsThe 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 dimeter>5.7 cm group. The analysis results were compared between the two groups. ResultsA 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<0.05). ConclusionThere 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 CREB, which regulate tumor cells through PI3K-AKT and JAK-STAT signaling pathways and play an important role in tumor generation. The CNV of ERCC6L and INTS6L genes may be related to tumor growth.
Objective To analyze the drug resistance genes, virulence genes and homologies of carbapenem-resistant Klebsiella pneumoniae (CRKP) colonized and infected patients in surgical intensive care unit based on whole genome sequencing. Methods Whole genome sequencing analysis was performed on CRKP infected strains isolated from the Department of General Surgery Intensive Care Unit and the Department of Liver Surgery Intensive Care Unit of Zhongshan Hospital, Fudan University in March 2021 and CRKP colonized strains isolated from the above departments between January and March 2021. The drug resistance genes, virulence genes and homologies of the strains were analyzed. ResultsA total of 16 CRKP strains were included, including 10 colonized strains and 6 infected strains. Except for the β-lactamase drug resistance gene CTX (16.7% vs. 100.0%, P<0.05), there was no significant difference in the detection rate of other drug resistance genes between CRKP infected strains and colonized strains (P>0.05). The cluster analysis of drug resistance genes of some strains was relatively close. Whole genome sequencing analysis showed that CRKP strains carried a variety of virulence genes, and the detection rates of entB, irp2, iroN, and rmpA genes were 100.0%, 87.5%, 37.5%, and 62.5%, respectively. There was no significant difference in the detection rate of virulence genes between CRKP infected strains and colonized strains (P>0.05). Homology analysis showed that some strains had close homologous relationships, and there was the possibility of cross transmission. Conclusions Some of CRKP infection strains and colonization strains in surgical intensive care unit patients have the risk of cross transmission. In the future, we should strengthen the prevention and control of nosocomial infection to reduce the incidence of infection.