Background: Gastrointestinal stromal tumors (GISTs) are commonly driven by activating mutations in either KIT or\nPDGFRA. Importantly, different mutations within these two genes can lead to very different levels of sensitivity or\nresistance to kinase inhibitor therapy. Due to rarity, sensitivity or resistance of exon 12 PDGFRA mutant GIST to kinase\ninhibitor therapy is not well defined.\nCase summary: We report the case of a patient with a PDGFRA exon 12 mutated GIST. The patient experienced a\nvery good response to imatinib in the neoadjuvant setting, but then relapsed while still on adjuvant imatinib. In this\npatient, we report a dramatic response to second line treatment with sunitinib, with complete resolution of two liver\nlesions at the time of first restaging.\nConclusions: This is the first report detailing a response to treatment with sunitinib of a gastrointestinal stromal\ntumor with an uncommon exon 12 PDGFRA mutation. Based on the observed efficacy, GIST patients with this rare\nmolecular subtype should be considered for sunitinib therapy.
Loading....