Impact of new molecular criteria on diagnosis and survival of adult glioma patients

• DOI: 10.1016/j.ibneur.2022.09.005
• Publication Date: 2022-09-19T16:43:24Z
• Authors: Danny Mortensen; Benedicte Parm Ulhøi; Slávka Lukacova; Jan Alsner; Magnus Stougaard; Jens Randel Nyeng...
• Keywords: 0301 basic medicine; 03 medical and health sciences; cIMPACT-NOW; WHO-CNS5; Next-generation sequencing; DNA methylation profiling; Neurosciences. Biological psychiatry. Neuropsychiatry; Retrospective reclassification; TERT promoter mutation; RC321-571; Research Paper; 3. Good health

The fifth edition WHO classification of Tumors the Central nervous system (WHO-CNS5) integrated new molecular parameters to refine CNS tumor classification. This study aimed reclassify a retrospective cohort adult glioma patients according WHO-CNS5, and assess if overall survival (OS) correlated with revised diagnosis. Further, diagnostic impact methylation profiling (MP) was evaluated. Adult gliomas diagnosed 2016 WHO-CNS (n = 226) were evaluated WHO-CNS5 criteria. All had NGS performed. 29 850k MP performed due challenging cases. OS analyzed using Kaplan-Meier plots log-rank test. 19 reclassified. Specifically, diffuse astrocytic glioma, IDH-wildtype, features glioblastoma (DAG-G) reclassified as 15). Shifts because TERT promoter (TERTp ) mutation 9), EGFR amplification 2), TERTp 1), gain chromosome 7, but uncertain 10 status lack coverage 3). Lower grade IDH-mutant astrocytomas astrocytoma IDH-mutant, 4 CDKN2A/B homozygous deletion 4). No significant difference in found for DAG-G whole group (p 0.59) only 0.44), compared glioblastoma. resulted diagnosis confirmed 15) no match 12). Our showed similar DAG patients, supporting that isolated may have prognostic role IDH-wildtype gliomas. our suggests is useful confirming diagnoses tumors.