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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


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


Frontal Lobe Predominant, Poorly Defined, Heterogenous Mass with Calcifications [12,13,14,15]

EGFRvIII Mutation


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]



Epicenter at the Cerebellar Peduncle [74, 75, 81, 82]


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


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