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| Molecular Profile | PDGFRB I535_A540delinsVPSWP |
| Therapy | Imatinib |
| Indication/Tumor Type | infantile myofibromatosis |
| Response Type | predicted - sensitive |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PDGFRB I535_A540delinsVPSWP | infantile myofibromatosis | predicted - sensitive | 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 |
| PubMed Id | Reference Title | Details |
|---|---|---|
| (36201717) | Novel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring. | Full reference... |