We performed respiratory-gated single-voxel 1H-MRS (TE = 144ms; voxel size 2.2-100ml; 96-512 averages) at 3T in tumours with suspected mutations in the mitochondrial enzyme succinate dehydrogenase (SDH) in 15 patients, analysed using LCModel. A germline mutation or epimutation in one of the SDH genes was identified in 11/15 subjects, with concordant MRS findings in 9 subjects, data rejection as technical failure in 4, and equivocal results in 2. Referencing succinate peaks to choline was an important quality control for discrimination of true from false negatives. MRS may provide a useful biomarker of SDH activity in this patient group.
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