Histomolecular diagnosis of glial and glioneuronal tumours

摘要: While rare compared to extra-cranial neoplasms, glial and glioneuronal tumors are responsible of high morbidity mortality. In 2016, the World Health Organization introduced histo-molecular ("integrated") diagnostics for central nervous system based on morphology, immunohistochemistry presence key genetic alterations. This combined phenotypic-genotypic classification allows a more objective diagnostic brain tumors. The implementation such in daily practice requires immunohistochemical surrogates detect common alterations sometimes expensive not widely available molecular biology techniques. first step tumor is inquire about clinical picture imaging findings. When dealing with tumor, pathologist needs assess its nature, infiltrative or circumscribed. If infiltrative, IDH1/2 genes (prognostic marker) chromosomes 1p/19q (diagnosis oligodendroglioma) need be assessed. appears circumscribed, should look neuronal component associated (glioneuronal tumor). A limited panel will help distinguish between diffuse glioma (IDH1-R132H, ATRX, p53) circumscribed glial/glioneuronal (CD34, markers, BRAF-V600E), some antibodies may reliably BRAF-V600E H3-K27M mutations). Chromosomal imbalances (1p/19q codeletion oligodendroglioma; chromosome 7 gain/chromosome 10 loss EGFR amplification glioblastoma) gene rearrangements (BRAF fusion, FGFR1 fusion) identified by up-coming edition WHO rely heavily accurately diagnose treat