Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas.
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DOI: 10.1016/j.euf.2021.12.002
Abstract: BACKGROUND Succinate dehydrogenase-deficient and fumarate hydratase-deficient renal cell carcinomas (SDHRCC and FHRCC) are rare kidney cancers driven by loss of TCA cycle enzymes. OBJECTIVE To define and compare the genomic and metabolomic hallmarks of SDHRCC… read more here.
Keywords: sdh deficient; renal cell; deficient renal; sdhrcc fhrcc ... See more keywords
A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Surgical Pathology"
DOI: 10.1177/10668969221074600
Abstract: Aims. Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a rare aggressive renal malignancy associated with hereditary leiomyomatosis and RCC syndrome (HLRCC). Tumors exhibiting heterogeneous (ie, patchy) FH loss by immunohistochemistry have rarely been described,… read more here.
Keywords: hydratase deficient; fumarate hydratase; rcc; deficient renal ... See more keywords
SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling.
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DOI: 10.1308/rcsann.2020.0196
Abstract: Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) accounts for 0.05-2% of all RCCs. The majority of patients have germline mutations, most frequently in the SDHB gene. People with these mutations are predisposed to developing paragangliomas,… read more here.
Keywords: cell carcinoma; renal cell; deficient renal; sdh deficient ... See more keywords