Clinicopathological and imaging features of fumarate hydratase-deficient renal cell carcinoma
ZHANG Tao-tao
YANG Zhe
HUO Yuan-yuan
Abstract：Objective To investigate the clinicopathologic features,immunophenotype and imaging features of fumarate hydratase-deficient renal cell carcinoma(FH-RCC).Methods The clinicopathological and imaging data of 7 cases of FH-RCC were retrospectively analyzed,and the related literature was reviewed.Results Imaging showed a cystic and solid mass with progressive enhancement on contrast-enhanced scan.Grossly,all tumors were unilateral and isolated.Under the microscope,there could be seen a mixture of papillary,tubulocystic,solid,cribriform structures,mainly papillary or tubulocystic structures,which had eosinophilic cytoplasm and large nucleoli like that were viral inclusion bodies.Immunohistochemistry showed that the tumor cells were partially positive for FH(2/7),2SC(7/7),PAX8(7/7)and SDHB(7/7),but negative for TFE3(7/7),CD117(7/7),RCC(7/7),CD10(7/7)and CAⅨ(7/7),and Ki-67 index was 5%-70%.Conclusion FH-RCC is highly aggressive.It has a poor prognosis.Histomorphology and immunohistochemistry are the key to the diagnosis,among which the immunohistochemistry of FH and 2SC are crucial for the diagnosis.How to detect FH-RCC early by imaging,diagnose it accurately by histopathology and make the best treatment are great challenges faced by pathologists,radiologists and clinicians.
Keywords：Fumarate hydratase-deficient renal cell carcinomaImmunohistochemistryFumarate hydrataseS-(2-succino)cysteine
Publication Date：2025-05-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 542-546 )