作者: Azadeh Ebrahimi , Marco Skardelly , Irina Bonzheim , Ines Ott , Helmut Mühleisen
DOI: 10.1186/S40478-016-0331-6
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摘要: Gliomas are the most frequent intraaxial CNS neoplasms with a heterogeneous molecular background. Recent studies on diffuse gliomas have shown alterations in genes involved chromatin remodelling pathways such as α-thalassemia/mental-retardation-syndrome-X-linked gene (ATRX). Yet, reliability of ATRX predicting isocitrate dehydrogenase (IDH) and H3 histone, family 3A (H3F3A) mutations gliomas, is unclear. We analysed expression status by immunohistochemistry, large series 1064 results correlation to IDH, H3F3A loss heterozygosity (LOH) 1p/19q these tumors. also investigated prognostic potential concerning clinical outcome patients gliomas. According our results, nuclear was accompanied an astrocytic tumor lineage younger age onset. astrocytomas strongly associated IDH1/2 mutation (p < 0.0001). Among 196 glial tumors loss, 173 (89 %) had IDH1 or IDH2 mutation. remaining 23 cases (11 %) IDH wild type status, 7 G34R (3 %) 2 K27M (1 %). retention mutant LOH oligodendroglioma histology confirmed significant role ATRX. Diffuse (n = 137, median 1413 days, 95 % CI: 1065–1860 days) revealed significantly better compared (n = 335, median: 609, 539–760 days, HR = 1.81, p < 0.0001). In conclusion, marker for prediction IDH/H3F3A substratification into survival relevant groups. Such classification great importance further decision making especially therapeutic options available