Current management of succinate dehydrogenase–deficient gastrointestinal stromal tumors
Sign Up to like & getrecommendations! Published in 2019 at "Cancer and Metastasis Reviews"
DOI: 10.1007/s10555-019-09818-0
Abstract: Gastrointestinal stromal tumors (GISTs) are increasingly recognized as having diverse biology. With the development of tyrosine kinase inhibitors molecularly matched to oncogenic KIT and PDGFRA mutations, GISTs have become a quintessential model for precision oncology.… read more here.
Keywords: sdh deficient; gastrointestinal stromal; stromal tumors; biology ... See more keywords
TET-Mediated Hypermethylation Primes SDH-Deficient Cells for HIF2α-Driven Mesenchymal Transition.
Sign Up to like & getrecommendations! Published in 2020 at "Cell reports"
DOI: 10.1016/j.celrep.2020.03.022
Abstract: Loss-of-function mutations in the SDHB subunit of succinate dehydrogenase predispose patients to aggressive tumors characterized by pseudohypoxic and hypermethylator phenotypes. The mechanisms leading to DNA hypermethylation and its contribution to SDH-deficient cancers remain undemonstrated. We examine the… read more here.
Keywords: sdh deficient; hypermethylation; mediated hypermethylation; tet mediated ... See more keywords
Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas.
Sign Up to like & getrecommendations! Published in 2022 at "European urology focus"
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
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs
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DOI: 10.1038/s41586-019-1668-3
Abstract: Epigenetic aberrations are widespread in cancer, yet the underlying mechanisms and causality remain poorly understood1–3. A subset of gastrointestinal stromal tumours (GISTs) lack canonical kinase mutations but instead have succinate dehydrogenase (SDH) deficiency and global… read more here.
Keywords: deficient gists; topology; oncogenic programs; sdh deficient ... See more keywords
SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling.
Sign Up to like & getrecommendations! Published in 2020 at "Annals of the Royal College of Surgeons of England"
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
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030646
Abstract: Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes… read more here.
Keywords: deficient gists; germline mutations; loss; sdha ... See more keywords