BRAF alterations in pediatric low grade gliomas and mixed neuronal–glial tumors
| Autor: | Neofytos Prodromou, George A. Alexiou, Amalia Patereli, Efthymios Dimitriadis, Kalliopi Stefanaki, Panagiota Tsotsou, Nikolaos Pandis, Efthymia Simeonidi |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Cancer Research Pathology medicine.medical_specialty Adolescent Oncogene Proteins Fusion endocrine system diseases Proliferation index Brain tumor Real-Time Polymerase Chain Reaction medicine.disease_cause Immunoenzyme Techniques Exon Glioma medicine Humans RNA Messenger Child skin and connective tissue diseases neoplasms Neurons Mutation biology Brain Neoplasms Reverse Transcriptase Polymerase Chain Reaction Kinase Infant medicine.disease digestive system diseases Neurology Oncology Child Preschool Ki-67 Mitogen-activated protein kinase biology.protein Cancer research Female Neurology (clinical) Neoplasm Grading |
| Zdroj: | Journal of Neuro-Oncology. 113:353-358 |
| ISSN: | 1573-7373 0167-594X |
| DOI: | 10.1007/s11060-013-1131-5 |
| Popis: | Low grade astrocytomas are the most common brain tumor in children. Recent studies have identified alterations in the BRAF serine/threonine kinase gene that result in mitogen activated protein kinase pathway activation. Herewith, we investigated the genetic changes of BRAF in pediatric low grade gliomas and their relation to pathological findings and Ki-67 proliferation index. The results showed gene fusions between KIAA1549 and BRAF in 66.7 % of tumors. The majority involved the KIAA1549-BRAF exon 16-exon 9 variant. Fusion junction between KIAA1549 exon 15 and BRAF exon 9 was found in five tumors, in which the myxoid component was the predominant. This has not been previously reported. No significant correlation was found between specific KIAA1549 and BRAF fusion junctions and Ki-67 index. All of the samples included in this study were tested for the presence of the BRAF(V600E) mutation, and no positive sample was found. |
| Databáze: | OpenAIRE |
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