Table 4.
Summary of the mutation specific antibodies and their indication in glioma diagnosis [12,36,48,81,84]
| Antibody | Positive loci | Mutated gene status | Positive result | Tumors |
|---|---|---|---|---|
| ATRX | Nucleus | Loss of function mutation | Negative | Diffuse and anaplastic astrocytoma |
| β-Catenin | Nucleus | Gain of function mutation | Focal positive | WNT type medulloblastoma, adamantinomatous craniopharyngioma |
| BRAF VE1 (BRAF V600E) | Cytoplasm | Gain of function mutation | Positive | Pleomorphic xanthoastrocytoma, ganglioglioma, pilocytic astrocytoma, epithelioid glioblastoma, papillary craniopharyngioma |
| BRG1 | Nucleus | Gain of function mutation | Negative | Atypical teratoid rhabdoid tumor |
| CIC | Nucleus | Loss of function mutation | Negative | Oligodendroglioma (47%) [15] |
| c-MET | Membrane | Overexpression | Positive | Glioblastoma, anaplastic astrocytoma |
| EGFR | Membrane | Overexpression | Positive | Glioblastoma, anaplastic astrocytoma |
| EGFRvIII | Membrane | Overexpression | Positive | Glioblastoma, anaplastic astrocytoma |
| H3 K27M | Nucleus | Gain of function mutation | Positive | Diffuse midline glioma |
| FUBP1 | Nucleus | Loss of function mutation | Negative | Oligodendroglioma (16%) [15] |
| IDH1 (H09) | Nucleus and cytoplasm | Gain of function mutation | Positive | Astrocytoma and oligodendroglioma |
| INI1 | Nucleus | Loss of function mutation | Negative | Atypical teratoid rhabdoid tumor |
| P16 | Nucleus and cytoplasm | Loss of function mutation | Negative | High grade glioma |
| P53 | Nucleus | Overexpression | Positive | Astrocytic tumors |
| PDGFRA | Membrane | Overexpression | Positive | Glioblastoma, anaplastic astrocytoma |
| PTEN | Cytoplasm | Loss of function mutation | Negative | Glioblastoma |
| RELA (NFKB3) | Cytoplasm | Gain of function mutation | Positive | Cerebral ependymoma |
| STAT6 | Nucleus | Gain of function mutation | Positive | Solitary fibrous tumor/hemangiopericytoma |
| MLH1 | Nucleus | Loss of function mutation | Negative | Gliomas |
| MSH2 | Nucleus | Loss of function mutation | Negative | Gliomas |
| PMS2 | Nucleus | Loss of function mutation | Negative | Gliomas |
| Ki67 | Nucleus | Overexpression | Positive | Brain tumors (for an ancillary test for tumor grading) |
| pHH3 | Nucleus | Overexpression | Positive | Brain tumors (for counting mitoses) |
| GFAP | Nucleus | Expression | Positive | Astrocytic tumors |
| Olig2 | Nucleus | Expression | Positive | Gliomas including astrocytomas and oligodendroglioma |
| Neither neuronal nor ependymal tumors |