[HTML][HTML] Fumarate hydratase–deficient renal cell carcinoma is strongly correlated with fumarate hydratase mutation and hereditary leiomyomatosis and renal cell …
Hereditary leiomyomatosis and renal cell carcinoma syndrome–associated renal cell
carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry
(IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-
succinocysteine [2SC] positive) in cases diagnosed as “unclassified RCC, high grade or with
papillary pattern,” or “papillary RCC type 2,” from multiple institutions. A total of 124 tumors
(from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in …
carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry
(IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-
succinocysteine [2SC] positive) in cases diagnosed as “unclassified RCC, high grade or with
papillary pattern,” or “papillary RCC type 2,” from multiple institutions. A total of 124 tumors
(from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in …
