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| Profile Name | PDGFRB I535_A540delinsVPSWP |
| Gene Variant Detail | |
| Relevant Treatment Approaches | PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor |
| Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|---|
| PDGFRB I535_A540delinsVPSWP | infantile myofibromatosis | predicted - sensitive | PDGFR Inhibitor (Pan) | Imatinib | Case Reports/Case Series | Actionable | In a clinical case study, Gleevec (imatinib) treatment resulted in improvement in the small bowel obstruction and gastric myofibromas after 6 weeks in a patient with multicentric infantile myofibromatosis harboring PDGFRB I535_A540delinsVPSWP, and in a preclinical analysis, Gleevec (imatinib) inhibited STAT and MAPK pathway activity in cells expressing PDGFRB I535_A540delinsVPSWP in a luciferase assay (PMID: 36201717). | 36201717 |