Trametinib has been used in neurofibromatosis type 1 (NF1) patients, especially those with unresectable nerve tumors, but no systematic review based on the latest studies has been published. We conducted this meta-analysis to evaluate the effectiveness and safety of trametinib in treating NF1-related nerve tumors. Original articles reporting the efficacy and safety of trametinib in NF1 patents were identified in PubMed, EMBASE, and Web of Science up to 1 June 2022. Using R software and the ‘meta’ package, the objective response rates (ORRs) and disease control rates (DCRs) were calculated to evaluate the efficacy, and the pooled proportion of adverse events (AEs) was calculated. The Grading of Recommendations, Assessment, Development and Evaluation system was used to assess the quality of evidence. Eight studies involving 92 patients were included, which had a very low to moderate quality of evidence. The pooled ORR was 45.3% (95% CI: 28.9–62.1%, I2 = 0%), and the DCR was 99.8% (95% CI: 95.5–100%, I2 = 0%). The most common AEs was paronychia, with a pooled rate of 60.7% (95% CI: 48.8–72.7%, I2 = 0%). Our results indicate the satisfactory ability to stabilize tumor progression but a more limited ability to shrink tumors of trametinib in NF1-related nerve tumors. The safety profile of trametinib is satisfactory.

Background Congenital heart diseases are the most frequent congenital disorder affecting a great number of live births. Insights into its genetic etiology could benefit a deeper understanding of this condition. Nf1 has been identified as a potential causative gene but has not been clarified clearly enough. Methods: Evidence from cohort-based and experimental studies on the issue of Nf1 and heart development and congenital heart diseases were searched and summarized from the databases. Results Available evidence demonstrated the correlations between NF1 and congenital heart diseases, mainly pulmonary valvar stenosis. The mechanism underlying may involve the dysregulation of endothelial-mesenchymal transdifferentiating (EMT) . The Nf1 gene cause affects the EMT process via multiple pathways, including directly regulating the expression of EMT-related transcription factors, and indirectly involved in the regulation of the EMT process by regulating the MAPK pathway. Conclusions This narrative review outlines a relatively complete story of the cardiovascular involvement in NF1 in terms of epidemiology and potential mechanisms. Ras signaling may contribute to congenital heart disease independently or in cooperation with other signaling pathways. Efficient management of both NF1 and cardiovascular disease patients would benefit from further research into these issues.