Molecular Profile Detail

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Profile Name ETV6 - PDGFRA
Gene Variant Detail

ETV6 - PDGFRA (gain of function - predicted)

Relevant Treatment Approaches

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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