Non-invasive in vivo detection of abnormal fumarate accumulation is important for identify fumarate hydratase (FH) deficiency in hereditary leiomyomatosis and renal cell carcinoma (HLRCC). However, until now, no study has been reported to successfully identify fumarate accumulation in HLRCC-associated RCC. In our study, we achieved an 100% accuracy in primary HLRCC-associated RCC, as well as all of the HLRCC PDX models. For our best knowledge, it is the first time that, MRS can be successfully used to in vivo detected in FH-deficient renal lesions, which is a crucial innovation of conventional imaging diagnostic technology.
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