Detection of oncogenic IDH1 mutations using magnetic resonance spectroscopy of 2-hydroxyglutarate.

Andronesi, Ovidiu C; Rapalino, Otto; Gerstner, Elizabeth; Chi, Andrew; Batchelor, Tracy T; Cahill, Dan P; Sorensen, A Gregory; Rosen, Bruce R · J Clin Invest · 2013

review · Level V

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Abstract

The investigation of metabolic pathways disturbed in isocitrate dehydrogenase (IDH) mutant tumors revealed that the hallmark metabolic alteration is the production of D-2-hydroxyglutarate (D-2HG). The biological impact of D-2HG strongly suggests that high levels of this metabolite may play a central role in propagating downstream the effects of mutant IDH, leading to malignant transformation of cells. Hence, D-2HG may be an ideal biomarker for both diagnosing and monitoring treatment response targeting IDH mutations. Magnetic resonance spectroscopy (MRS) is well suited to the task of noninvasive D-2HG detection, and there has been much interest in developing such methods. Here, we review recent efforts to translate methodology using MRS to reliably measure in vivo D-2HG into clinical research.

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