Anatomic pathology selected abstracts
April 2024—Fumarate hydratase-deficient renal cell carcinoma is a rare and distinct subtype of renal cancer caused by FH gene mutations. FH negativity and s-2-succinocysteine (2SC) positivity on IHC can be used to screen for FH-deficient renal cell carcinoma (RCC), but their sensitivity and specificity are imperfect. The expression of AKR1B10, an aldo-keto reductase that catalyzes cofactor-dependent oxidation-reduction reactions, in RCC is unclear. The authors compared AKR1B10, 2SC, and FH as diagnostic biomarkers for FH-deficient RCC. They included genetically confirmed FH-deficient RCCs (n=58), genetically confirmed TFE3 translocation RCCs (TFE3-tRCC; n=83), clear cell RCCs (n=188), chromophobe RCCs (n=128), and papillary RCCs (pRCC; n=97).