RESUMEN
Sarcoma is a rare disease affecting both bone and connective tissue and with over 100 pathologic entities, differential diagnosis can be difficult. Complementing immune-histological diagnosis with current ancillary diagnostic techniques, including FISH and RT-PCR, can lead to inconclusive results in a significant number of cases. We describe here the design and validation of a novel sequencing tool to improve sarcoma diagnosis. A NGS DNA capture panel containing probes for 87 fusion genes and 7 genes with frequent copy number changes was designed and optimized. A cohort of 113 DNA samples extracted from soft-tissue and bone sarcoma FFPE material with clinical FISH and/or RT-PCR results positive for either a translocation or gene amplification was used for validation of the NGS method. Sarcoma-specific translocations or gene amplifications were confirmed in 110 out of 113 cases using FISH and/or RT-PCR as gold-standard. MDM2/CDK4 amplification and a total of 25 distinct fusion genes were identified in this cohort of patients using the NGS approach. Overall, the sensitivity of the NGS panel is 97% with a specificity of 100 and 0% failure rate. Targeted NGS appears to be a feasible and cost-effective approach to improve sarcoma subtype diagnosis with the ability to screen for a wide range of genetic aberrations in one test.
Asunto(s)
Biomarcadores de Tumor/análisis , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Sarcoma/diagnóstico , Análisis de Secuencia de ADN/métodos , Biomarcadores de Tumor/genética , Humanos , Sarcoma/genética , Sensibilidad y EspecificidadRESUMEN
Improving rates of hand hygiene compliance (HHC) has been shown to reduce nosocomial disease. We compared the HHC for a traditional wall-mounted unit and a novel sanitizer-dispensing door handle device in a hospital inpatient ultrasound area. HHC increased 24.5%-77.1% (P < .001) for the exam room with the sanitizer-dispensing door handle, whereas it remained unchanged for the other rooms. Technical improvements like a sanitizer-dispensing door handle can improve hospital HHC.