Article
SDHC methylation in gastrointestinal stromal tumors (GIST): a case report.
BMC medical genetics - 28 Sept 2015
Urbini Milena, Astolfi Annalisa, Indio Valentina, Heinrich Michael C, Corless Christopher L, Nannini Margherita, Ravegnini Gloria, Biasco Guido, Pantaleo Maria A
Abstract excerpt
BACKGROUND: Gastrointestinal stromal tumors (GIST) recently have been recognized as a genetically and biologically heterogeneous disease. In addition to KIT or PDGFRA mutated GIST, mutational inactivation of succinate dehydrogenase (SDH) subunits has been detected in the KIT/PDGFRA wild-type subgroup, referred to as SDH deficient (dSDH). Even though most dSDH GIST harbor mutations in SDHx subunit genes, some are...
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