Abstract
e14022 Background: The WHO-2016 classification of central nervous system tumors introduced molecular data to perform the diagnosis, especially in gliomas. The cIMPACT-NOW updates and the WHO-2021 classification have consolidated this need, and today a comprehensive structured diagnosis is indicated. Therefore, we study the impact of the use of NGS in changing the diagnosis of gliomas in routine clinical practice. Methods: We have carried out a systematic search of glioma patients operated between January 2008 and September 2021 and diagnosed according to WHO-2016 and cIMPACT-NOW updated criteria at our academic medical center in Spain. All included patients were reclassified to WHO-2021 according to pathological data. Subsequently, we analyzed whether the application of NGS led to a change in the WHO-2016 or WHO-2021 diagnosis. We also analyzed the median of tumor mutation burden (TMB), variants of unknown significance (VUSs), potential enrollment eligible (PENs) and cancer-related alterations (CRAs). Results: Although our center serves a population of 1.8 million people, the scarcity of biopsied material and the difficulty of accessing NGS early enough limited the recruitable patients to 22. Of them 17 patients (77.27%) remained after NGS results with the same WHO-2016 and WHO-2021 diagnosis and in 5 (22.73%) it involved a change in diagnosis (Table). No PENs were detected for any patient. A median of 4 CRAs and 6 VUSs were detected per patient. The median TMB was 1.89 mutations per megabase. Conclusions: The scarce quality biopsied material and the limited access to NGS restrict its use in gliomas. Despite this, its impact in diagnosis cannot be ignored, in our study the diagnosis changed in 1 out of 3.18 patients regardless of the classification used. With these data we recommend increasing the effort to facilitate NGS to glioma patients early enough. Further studies remain essential to determine the impact of NGS results in treatment.[Table: see text]
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