Table 2.
Selected Molecular Markers in Gliomas of Children
| Marker | Full name | Gene location | Tumor type (% altered) | Function | Alteration type | Molecular techniques | Biomarker type | Therapeutic approaches |
|---|---|---|---|---|---|---|---|---|
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | 7q34 | Pilocytic astrocytoma (85%), pleomorphic xanthoastrocytoma (50%–70%), pediatric diffuse astrocytoma (23%) | MAPK signaling | Fusions, point mutations, small deletions/insertions | FISH, aCGH, RT-PCR (fusion) Sequencing techniques (mutations) |
Diagnostic, prognostic, Predictive | BRAF inhibitors (dabrafenib, vemurafenib), MEK inhibitors (selumetinib and binimetinib) |
| H3F3A | H3 histone, family 3A | 1q42.12 | Diffuse midline gliomas (50%–80%) | Chromatin structure, gene transcription | Mutation | Sequencing techniques, immunohistochemistry (mutant protein) | Diagnostic, prognostic | NA |
| MYB | v-myb avian myeloblastosis viral oncogene homolog | 6q23.3 | Approximately 100% of angiocentric gliomas (predominantly through MYB-QKI fusions) | Transcriptional regulator | Rearrangements | Sequencing techniques, FISH, aCGH | Diagnostic | NA |
| MYBL1 | v-myb avian myeloblastosis viral oncogene homolog-like 1 | 8q13.1 | Diffuse pediatric astrocytoma (28%) | Transcriptional regulator | Rearrangements | Sequencing techniques, FISH, aCGH | Diagnostic | NA |
| FGFR1 | Fibroblast growth factor receptor 1 | 8p11.23-p11.22 | Low-grade neuroepithelial tumors with oligodendrocyte-like cells (40%–82%), pilocytic astrocytoma (6%) | MAPK, PI3K/mTOR signaling activation | Mutations, TK duplications | Sequencing techniques | Diagnostic, prognostic, predictive | FGFR inhibitors |
aCGH, array comparative genomic hybridization; FGFR, fibroblast growth factor receptor; FISH, fluorescence in situ hybridization; MAPK, mitogen-activated protein kinase; MEK, mitogen-activated protein kinase kinase; mTOR, mammalian target of rapamycin; NA, not applicable; PI3K, phosphatidylinositol 3-kinase; TK, tyrosine kinase.