Gastrointestinal stromal tumor causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Causes

Although some families with hereditary GISTs have been described, most cases are sporadic.

In GIST cells, the c-kit gene is mutated approximately 85% to 90% of the time. 35% of the GIST cells that do not have a mutated c-kit ("wild-type") do have a mutation in another gene, PDGFR-α (platelet derived growth factor receptor alpha), which is a related tyrosine kinase. Mutations in the exons 11, 9 and rarely 13 and 17 of the c-kit gene are known to occur in GIST. D816V point mutations in c-kit exon 17 are responsible for resistance to targeted therapy drugs like imatinib mesylate. Mutations in c-kit and PDGFrA are mutually exclusive[2][3].