Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma
作者： Andrey Korshunov , Jochen Meyer , David Capper , Arne Christians , Marc Remke
DOI: 10.1007/S00401-009-0550-Z
关键词:
摘要: Separation of pilocytic astrocytoma from diffuse astrocytomas frequently poses problems mostly related to small sample size. Precise classification and grading are essential due different therapeutic strategies prompted by diagnoses WHO grade I, II or anaplastic III. Recently, genomic aberrations with a high specificity for distinct glioma entities have been described. Pilocytic carry duplication at chromosome band 7q34 containing BRAF-KIAA1549 gene fusion in the majority cases. IDH1 mutations observed very adult IDH2 reported some astrocytomas. We examined series 120 including 70 I 50 both, newly developed FISH assay direct sequencing. contained BRAF 49 cases (70%) but neither nor mutations. Astrocytomas exhibited 38 (76%) fusions. Thus, combined molecular analysis is sensitive highly specific approach separate astrocytoma.
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