Article
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Journal of clinical pathology - 14 Dec 2023
Giger Olivier T, Ten Hoopen Rogier, Shorthouse David, Abdullahi Shukri, Bulusu Venkata Ramesh, Jadhav Saili, Maher Eamonn R, Casey Ruth T
Abstract excerpt
AIMS: Wild-type gastrointestinal stromal tumours (wtGIST) are frequently caused by inherited pathogenic variants, or somatic alterations in the succinate dehydrogenase subunit genes (SDHx). Succinate dehydrogenase is a key enzyme in the citric acid cycle. SDH deficiency caused by SDHx inactivation leads to an accumulation of succinate, which inhibits DNA and histone demethylase enzymes, resulting in global...
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