Applied Precision Cancer Medicine in Neuro-Oncology

• Published in: Scientific reports 2019-12, Vol.9 (1), p.20139-8, Article 20139
• Main Authors: Taghizadeh, H., Müllauer, L., Furtner, J., Hainfellner, J. A., Marosi, C., Preusser, M., Prager, G. W.
• Format: Article
• Language: English
• Subjects: 14/32; 45/23; 692/4028/67; 692/4028/67/1922; 692/4028/67/69; 82/51; 96/1; Biomarkers, Tumor; Brain cancer; Brain tumors; Disease Susceptibility; Epidermal growth factor receptors; Fluorescence in situ hybridization; Genome-Wide Association Study; Humanities and Social Sciences; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Medical Oncology - methods; multidisciplinary; Mutation; Nervous System Neoplasms - diagnosis; Nervous System Neoplasms - etiology; Nervous System Neoplasms - therapy; Next-generation sequencing; Oncology; p53 Protein; Precision Medicine - methods; Science; Science (multidisciplinary); Targeted cancer therapy; TOR protein; Tumors
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-019-56473-0

Brain tumours that are refractory to treatment have a poor prognosis and constitute a major challenge in offering effective treatment strategies. By targeting molecular alterations, precision cancer medicine may be a viable option for the treatment of brain tumours. In this retrospective analysis of our PCM platform, we describe the molecular profiling of primary brain tumours from 50 patients. Tumour samples of the patients were examined by a 161-gene next-generation sequencing panel, immunohistochemistry, and fluorescence in situ hybridization (FISH). We identified 103 molecular aberrations in 36 (72%) of the 50 patients. The predominant mutations were TP53 (14.6%), IDH1 (9.7%) and PIK3CA (6.8%). No mutations were detected in 14 (28%) of the 50 patients. IHC demonstrated frequent overexpression of EGFR and mTOR, in 38 (76%) and 35 (70%) patients, respectively. Overexpression of PDGFRa and PDGFRb were less common and detected in 16 and four patients, respectively. For 35 patients a targeted therapy was recommended. In our database, the majority of patients displayed mutations, against which targeted therapy could be offered. Based on our observations, PCM may be a feasible novel treatment approach in neuro-oncology.