What is it about?
SDH-deficient GISTs may also occur outside of the stomach.
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Why is it important?
SDH-deficient GISTs may be associated with an underlying SDHx mutation (with implications in terms of phaeochromocytoma/paraganglioma risk) and have a different prognosis and treatment options compared to GISTs associated with KIT or PDGFRA mutations.
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This page is a summary of: A Duodenal SDH-Deficient Gastrointestinal Stromal Tumor in a Patient With a Germline SDHB Mutation, The Journal of Clinical Endocrinology & Metabolism, March 2017, Endocrine Society,
DOI: 10.1210/jc.2017-00165.
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