RESUMO
Purpose@#The unique chromosomal rearrangements of endometrial stromal sarcoma (ESS) make it possible to distinguish high-grade ESS (HGESS) and low-grade ESS (LGESS) from the molecular perspective. Analysis of ESS at the genomic and transcriptomic levels can help us achieve accurate diagnosis of ESS and provide potential therapy options for ESS patients. @*Materials and Methods@#A total of 36 ESS patients who conducted DNA- and/or RNA-based next-generation sequencing were retrospectively enrolled in this study. The molecular characteristics of ESS at genomic and transcriptomic levels, including mutational spectrum, fusion profiles, gene expression and pathway enrichment analysis and features about immune microenvironment were comprehensively explored. @*Results@#TP53 and DNMT3A mutations were the most frequent mutations. The classical fusions frequently found in HGESS (ZC3H7B-BCOR and NUTM2B-YWHAE) and LGESS (JAZF1-SUZ12) were detected in our cohort. CCND1 was significantly up-regulated in HGESS, while the expression of GPER1 and PGR encoding estrogen receptor (ER) and progesterone receptor (PR) did not differ significantly between HGESS and LGESS. Actionable mutations enriched in homologous recombination repair, cell cycle, and phosphoinositide 3-kinase/AKT/mammalian target of rapamycin pathways were detected in 60% of HGESS patients. Genes with up-regulated expression in HGESS were significantly enriched in five immune-related pathways. Most HGESS patients (85.7%) had positive predictors of immunotherapy efficacy. Moreover, immune microenvironment analysis showed that HGESS had relatively high immune infiltration. The degree of immune infiltration in HGESS patients with ZC3H7B-BCOR fusion was relatively higher than that of those with NUTM2B-YWHAE fusion. @*Conclusion@#This study investigated the molecular characteristics of ESS patients at the genomic and transcriptomic levels and revealed the potentially high sensitivity of targeted therapy and immunotherapy in a subset of HGESS with specific molecular features, providing a basis for guiding decision-making of treatment and the design of future clinical trials on precision therapy.
RESUMO
@#Objective To evaluate the efficacy of transcatheter aortic valve implantation (TAVI) for native aortic valve regurgitation. Methods Literature from The Cochrane Library, PubMed, EMbase, Cochrane Controlled Trials Registry, ClinicalTrials.gov and China Biomedical Literature Database from January 2002 to May 2021 were searched by computer. The literature on TAVI or transcatheter aortic valve replacement treatment for simple aortic reflux were collected. Two reviewers independently screened the literature according to the inclusion and exclusion criteria, extracted data, and assessed the quality of the literature. Meta-analysis was performed using STATA 14.0 software. Results A total of 15 studies including 1 394 patients were included. The Newcastle-Ottawa Scales of the studies were≥6 points. The success rate of prosthetic valve implantation was 72.0%-100.0%, and there was no report of serious complications such as surgical death, myocardial infarction, and valve annulus rupture. The 30-day all-cause mortality rate was 6.3% [95%CI (3.4%, 9.1%)]. The incidence of stroke within 30 days and the rate of postoperative permanent pacemaker implantation were 2.0% [95%CI (1.0%, 4.0%)] and 6.0% [95%CI (4.0%, 10.0%)], respectively, and were both within acceptable limits. Conclusion For patients with simple high-risk aortic regurgitation, TAVI can obtain satisfactory treatment effects and has low postoperative complications rate, and it may be a potential treatment option for such patients.