A key molecular defect in a childhood gastrointestinal tumor may have important diagnostic implications

NCI scientists have identified a key molecular defect that may have important diagnostic implications in a tumor in children known as gastrointestinal stromal tumor, or GIST. Patients with pediatric GIST typically are deficient in the enzyme succinate dehydrogenase (SDH), which is essential for cell metabolism and energy production. Some tumors in patients with pediatric GIST have mutations in one of the four genes that code for SDH (SDHA, SDHB, SDHC, and SDHD—collectively termed SDHx). However, in some patients with pediatric GIST these genes do not have mutations. Read more here.