Objectives: Next-generation sequencing (NGS) has the potential to identify genetic alterations that are actionable with targeted therapy. Our objective was to identify the impact of NGS testing on advanced breast and gynecologic malignancies.
Methods: A retrospective review of 108 patients who underwent NGS testing between 2015 and 2019 was performed. The NGS clinical action rate was calculated based on documentation of positive clinical action taken in cases with an actionable NGS result.
Results: The 108 specimens tested included 35 breast cancers and 73 gynecologic malignancies, with most of the testing performed at Foundation Medicine (90%). Actionable mutation(s) were identified in 79 (73%) of 108 cases. The overall clinical action rate of NGS testing was 38% (30 of 79 cases). Overall, 47 (44%) of 108 patients died, all succumbing to disease. The average survival was 10.9 months. The survival difference between patients with actionable NGS result and targeted treatment, actionable NGS result but no targeted treatment, and patients with nonactionable NGS result was not significant (log-rank test, P = .5160).
Conclusions: NGS testing for advanced breast and gynecologic cancers at our institution has a 38% clinical action rate. However, the increased clinical action rate over the years did not translate into improved survival.
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http://dx.doi.org/10.1093/ajcp/aqaa256 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125.
Cognition relies on transforming sensory inputs into a generalizable understanding of the world. Mirror neurons have been proposed to underlie this process, mapping visual representations of others' actions and sensations onto neurons that mediate our own, providing a conduit for understanding. However, this theory has limitations.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Centre for Ecological Dynamics in a Novel Biosphere, Section of EcoInformatics and Biodiversity, Department of Biology, Aarhus University, Aarhus 8000, Denmark.
Adv Sci (Weinh)
January 2025
Department of Internal Medicine III, University Hospital RWTH Aachen, Pauwelsstraße 30, 52074, Aachen, Germany.
Most gene therapies exert their actions via manipulation of hepatocytes (parenchymal cells) and the reasons behind the suboptimal performance of synthetic mRNA in non-parenchymal cells (NPC) such as Kupffer cells (KC), and liver macrophages, remain unclear. Here, the spatio-temporal distribution of mRNA encoding enhanced green fluorescent protein (Egfp), siRNA, or both co-encapsulated into lipid nanoparticles (LNP) in the liver in vivo using real-time intravital imaging is investigated. Although both KC and hepatocytes demonstrate comparable high and rapid uptake of mRNA-LNP and siRNA-LNP in vivo, the translation of Egfp mRNA occurs exclusively in hepatocytes during intravital imaging.
View Article and Find Full Text PDFJ ECT
January 2025
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia.
Objectives: Electroconvulsive therapy (ECT) is one of the most effective treatments for treatment-resistant depression (TRD), even though the molecular mechanisms underlying its efficacy remain largely unclear. This study aimed, for the first time, to analyze plasma levels of miRNAs, key regulators of gene expression, in TRD patients undergoing ECT to investigate potential changes during treatment and their associations with symptom improvement.
Methods: The study involved 27 TRD patients who underwent ECT.
Health Expect
February 2025
Community Paediatrics Research Group, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Background And Objective: Migrant and refugee women, families, and their children can experience significant language, cultural, and psychosocial barriers to engage with child and family services. Integrated child and family health Hubs are increasingly promoted as a potential solution to address access barriers; however, there is scant literature on how to best implement them with migrant and refugee populations. Our aim was to explore with service providers and consumers the barriers, enablers, and experiences with Hubs and the resulting building blocks required for acceptable Hub implementation for migrant and refugee families.
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