Research ArticleCancer

Recurrent epimutation of SDHC in gastrointestinal stromal tumors

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Science Translational Medicine  24 Dec 2014:
Vol. 6, Issue 268, pp. 268ra177
DOI: 10.1126/scitranslmed.3009961

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All Roads Lead to Loss of Expression

Gastrointestinal stromal tumors are the most common mesenchymal tumors in the gastrointestinal tract, and they can occur in isolation or as part of a constellation of cancers known as Carney triad. A subtype of this cancer, characterized by lack of expression in a gene called SDH, is not well understood and lacks a specific treatment, and this is the type that most commonly occurs in children. Now, Killian et al. have identified methylation of the SDH gene in patients with SDH-deficient gastrointestinal stromal tumors who lack mutations in the SDH gene. This finding provides a common link explaining the pathogenesis of these SDH-deficient tumors, including many of the ones associated with Carney triad.