Table 1. Genetic mutations in brain tumors with current clinical and imaging implications.

Genetic mutations and clinical imaging implications/associations
	Current implications/associations	Imaging associations
IDH1/2 mutations	Oligodendroglial tumors	Minimal or no contrast enhancement
	Positive prognostic factor	Reported detection of 2-HG by MRS
		Research into hyperpolarized C13 detection in animal models
1p19q deletion	Oligodendroglial tumors	Reported more heterogeneous signal characteristics
		Reported elevated perfusion
MGMT promoter methylation	Pseudo-progression more common	Pseudo-progression more common
	Alkylating agents
ATRX deletion	Astrocytic tumors
	Not seen with 1p19q deletion
PTEN deletion	Small cell phenotype of glioblastoma with EGFR amplification and 10q loss	Reported increased perfusion in tumors with PTEN mutation, EGFR amplification, unmethylated MGMT promoter
EGFR amplification	Reported in approximately 40% of glioblastomas	Reported increased perfusion
		Reported lower ADC values, higher enhancing/necrotic volume

ADC, apparent diffusion coefficient; ATRX, alpha thalassemia-mental retardation syndrome X-linked; C-13, carbon 13; EGFR, epidermal growth factor receptor; IDH, isocitrate dehydrogenase; MGMT, O⁶-methylguanine-DNA methyl-transferase; MRS, magnetic resonance spectroscopy; PTEN, phosphatase and tensin homolog; 2-HG, 2-hydroxyglutarate