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Gastrointestinal stromal tumors may be linked to oxygen deficiency
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More than 10% of patients with gastrointestinal stromal tumors had genetic mutations that led to failures in the production of succinate dehydrogenase, according to findings published recently by the NIH.
Previous research has indicated that most adults who develop gastrointestinal stromal tumors have mutations in the KIT and PDGFRA genes.
The aim of the current study was to determine genetic causes of gastrointestinal stromal tumors among patients who do not have these specific genetic mutations. Tissues from 34 patients were examined for mutations in the genes for succinate dehydrogenase.
This specific enzyme was chosen due to previous evidence that it is an indicator of Carney-Stratakis syndrome, which the researchers said is when gastrointestinal stromal tumors occur with paraganglioma.
Results indicated that 12% of patients with gastrointestinal stromal tumors had mutations “in genes containing the information needed to make up the parts, or subunits, of succinate dehydrogenase,” according to the NIH release. Defects in the B and C subunits of the enzyme were notable in this subgroup of patients.
The same mutations were not observed in the rest of the patients. However, it was observed that cellular respiration was disrupted and succinate dehydrogenase did not appear to be functioning in tissue from the tumors of this subgroup of patients. This prompted the researchers to suggest that undiscovered mutations may be the cause of the enzyme’s failure to function.
Imatinib has demonstrated efficacy in treating tumors with these genetic mutations. However, many gastrointestinal stromal tumors that occur in children do not have KIT or PDGFRA mutations, and therefore, imatinib is not as efficacious.
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