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|Profile Name||ETV6 - PDGFRA|
|Gene Variant Detail|
|Relevant Treatment Approaches|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|PDGFRA act mut||pancreatic cancer||predicted - sensitive||Vistusertib||Phase I||Actionable||In a Phase I trial, Vistusertib (AZD2014) demonstrated safety and preliminary efficacy in patients with advanced solid tumors, including a patient with pancreatic cancer harboring a PDGFRA activating mutation (PMID: 25805799).||25805799|
|PDGFRA act mut||gastrointestinal stromal tumor||not applicable||N/A||Guideline||Diagnostic||PDGFRA activating mutations aid the diagnosis of gastrointestinal stromal tumor (NCCN.org).||detail...|
|PDGFRA mutant||gastrointestinal stromal tumor||sensitive||Imatinib||Guideline||Actionable||Gleevec (imatinib) is included in the guidelines as first-line therapy for patients with gastrointestinal stromal tumor (GIST) with PDGFRA mutations (NCCN.org).||detail...|
|PDGFRA mutant||gastrointestinal stromal tumor||not applicable||N/A||Clinical Study||Diagnostic||PDGFRA mutations are used in the diagnosis of gastrointestinal stromal tumors (PMID: 26276366, PMID: 25729899).||25729899 26276366|
|PDGFRA mutant||gastrointestinal stromal tumor||predicted - sensitive||Ripretinib||Phase I||Actionable||In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (n=135) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months (PMID: 32804590; NCT02571036).||32804590|
|ETV6 mutant||myelodysplastic syndrome||not applicable||N/A||Clinical Study||Prognostic||In multiple clinical studies, ETV6 mutations were associated with a shorter overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 21877899, PMID: 26769228).||21877899 26769228 21714648|
|ETV6 mutant||myelodysplastic syndrome||not applicable||N/A||Guideline||Prognostic||ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).||detail...|
|Clinical Trial||Phase||Therapies||Title||Recruitment Status|