RESUMO
OBJECTIVES: Gene rearrangements frequently act as oncogenic driver mutations and determine the onset and progression of cancer. RNA-based next-generation sequencing (NGS) is being used with increasing frequency for solid tumors. The purpose of our study is to investigate the feasibility and utility of an RNA-based NGS fusion panel for solid tumors. METHODS: We conducted a retrospective, single-institution review of fusion panels requested between May 2022 and March 2023. Demographic, clinical, pathologic, and molecular findings of the patients were reviewed. The utility of the RNA-based NGS fusion panel for the pathologic diagnosis of solid tumors was assessed. RESULTS: Our study included 345 cases, and a fusion event was identified in 24.3% (78/321) of cases. Among the 110 cases submitted for diagnostic purposes, a fusion event was detected in 42.7% (47/110) of cases. The results led to refinement or clarification of the initial diagnosis in 31.9% (15/47) of cases and agreement or support for the initial diagnosis in 59.6% (28/47) of cases. Furthermore, our study indicated that the overall cellularity (tumor and normal tissue) of the tested specimen influences the success of the testing process. CONCLUSIONS: In summary, this study demonstrated the feasibility and utility of an RNA-based NGS fusion panel for a wide variety of solid tumors in the appropriate clinicopathologic context. These findings warrant further validation in larger studies involving multiple institutional patient cohorts.
Assuntos
Neoplasias , RNA , Humanos , Estudos Retrospectivos , Neoplasias/diagnóstico , Neoplasias/genética , Neoplasias/patologia , Rearranjo Gênico , Sequenciamento de Nucleotídeos em Larga Escala/métodosRESUMO
Manual reading of fluorescent acid-fast bacilli (AFB) microscopy slides is time-intensive and technically demanding. The aim of this study was to evaluate the accuracy of MetaSystems' automated fluorescent AFB slide scanner and analyzer. Auramine O-stained slides corresponding to 133 culture-positive and 363 culture-negative respiratory (n = 284), tissue (n = 120), body fluid (n = 81), and other (n = 11) sources were evaluated with the MetaSystems Mycobacteria Scanner running the NEON Metafer AFB Module. The sensitivity and specificity of the MetaSystems platform was measured as a standalone diagnostic and as an assistant to technologists to review positive images. Culture results were used as the reference method. The MetaSystems platform failed to scan 57 (11.5%) slides. The MetaSystems platform used as a standalone had a sensitivity of 97.0% (129/133; 95% CI 92.5 to 99.2) and specificity of 12.7% (46/363; 95% CI 9.4 to 16.5). When positive scans were used to assist technologists, the MetaSystems platform had a sensitivity of 70.7% (94/133; 95% CI 62.2 to 78.3) and specificity of 89.0% (323/363; 95% CI 85.3 to 92.0). The manual microscopy method had a sensitivity of 79.7% (106/133; 95% CI 71.9 to 86.2) and specificity of 98.6% (358/363; 95% CI 96.8 to 99.6). The sensitivity of the MetaSystems platform was not impacted by smear grade or mycobacterial species. The majority (70.3%) of false positive smears had ≥2+ smear results with the MetaSystems platform. Further performance improvements are needed before the MetaSystems' automated fluorescent AFB slide reader can be used to assist microscopist in the clinical laboratory.