Table 1 Molecular markers, their relevant tumors and imaging features
From: Imaging diagnosis and treatment selection for brain tumors in the era of molecular therapeutics
Marker | Relevant Tumors with these Mutations | Relevant Imaging Features |
|---|---|---|
IDH-1/2 Mutation + 1p19q Non-Codeletion | IDH-Mutant Astrocytoma | |
IDH-1/2 Mutation + 1p19q Codeletion | Oligodendroglioma | Frontal Lobe Predominant, Poorly Defined, Heterogenous Mass with Calcifications [12,13,14,15] |
EGFRvIII Mutation | Glioblastoma | Frontoparietal Predominance with Radiomic Signature of Higher rCBV, Lower ADC, Higher FA, and Lower T2-FLAIR Signal [38] |
H3 K27-Altered | Pediatric Diffuse Midline Glioma | Variable Midline Brainstem Mass Often with CSF Dissemination [61,62,63, 73] |
FGFR3-TACC3 Fusion | Adult-Type Gliomas | Non-Eloquent Area Involvement with Poorly Defined Margins and Reduced Enhancement Intensity [39] |
TERT Promoter Mutation | Adult-Type Gliomas | Higher Volume of Necrosis and Lower Vascular Permeability Values [52, 53] |
WNT | Medulloblastoma | |
SHH | Adult-Epicenter at the Cerebellar Hemisphere Infant-Ill-Defined Margins and Prominent Enhancement [74, 75, 81, 82] | |
Group 3 | Epicenter at Midline with Ill-Defined Margins and Prominent Enhancement [74, 75, 81, 82] Taurine Peaks and High Creatine [83, 84] Laminar Metastases [90] | |
Group 4 | Epicenter at Midline with Well-Defined Margins and Trace to No Enhancement [74, 75, 81, 82] Taurine Peaks and High Creatine [83, 84] Nodular and/or Suprasellar Metastases [90] | |
BRAFV600 Mutation | PXA, PA, GG | Cyst with Enhancing Mural Nodule [111] BRAFV600-Mutant PA and GG Show Significantly Lower ADC Values [113] Supratentorial GG-Well Circumscribed with Heterogenous Enhancement [112] Infratentorial GG-Infiltrative and Expansile with “Paintbrush” Enhancement [112] |
BRAF-K1AA1549 Fusion | PA |