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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 T2/FLAIR Mismatch [17,18,19]
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 Epicenter at the Cerebellar Peduncle [74, 75, 81, 82]
SHH Adult-Epicenter at the Cerebellar Hemisphere
Infant-Ill-Defined Margins and Prominent Enhancement [74, 75, 81, 82]
Low to No Taurine or Creatine Levels [83, 84]
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