Abstract | OBJECTIVE: PATIENTS AND METHODS: Sections of FFPE tumor specimens from 18 PPGL, 10 GIST and 11 RCC patients with known SDHx mutation status for SDH deficiency were collected for mass spectrometric analysis of succinate and fumarate. RESULTS: FFPE samples showed higher succinate: fumarate ratios in SDH-deficient PPGLs compared to SDH-sufficient PPGLs. Similarly, a higher succinate: fumarate ratio was able to distinguish SDH-deficient GISTs and RCCs from their SDH-sufficient counterparts with great selectivity. Interestingly, the cut-off value of the succinate: fumarate ratio was two-folds greater in RCCs than GISTs. CONCLUSION: Analyzing biochemical imbalances preserved in FFPE specimens with mass spectrometry expands the method and sample type repertoire available for characterisation of multiple neoplasias associated with SDH deficiency.
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Authors | Edward Kim, Michael Jp Wright, Loretta Sioson, Talia Novos, Anthony J Gill, Diana E Benn, Christopher White, Trisha Dwight, Roderick J Clifton-Bligh |
Journal | Molecular genetics and metabolism reports
(Mol Genet Metab Rep)
Vol. 10
Pg. 45-49
(Mar 2017)
ISSN: 2214-4269 [Print] United States |
PMID | 28070496
(Publication Type: Journal Article)
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