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Profile Name | MAP2K1 E102_I103del |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
MAP2K1 E102_I103del | Advanced Solid Tumor | resistant | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing MAP2K1 E102_I103del were resistant to Mekinist (trametinib) in culture (PMID: 36442478). | 36442478 | |
MAP2K1 E102_I103del | histiocytosis | predicted - sensitive | Cobimetinib | Case Reports/Case Series | Actionable | In a clinical case study, Cotellic (cobimetinib) resulted in dramatic clinical improvement and decreased variant allele frequency in a patient with mixed histiocytosis harboring MAP2K1 E102_I103del, with the patient remaining disease free at least 3 years after treatment initiation (PMID: 36406830). | 36406830 | |
MAP2K1 E102_I103del | Advanced Solid Tumor | predicted - sensitive | SCH772984 | Preclinical - Biochemical | Actionable | In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 E102_I103del in culture (PMID: 32641410). | 32641410 | |
MAP2K1 E102_I103del | Advanced Solid Tumor | resistant | Trametinib | Preclinical - Biochemical | Actionable | In a preclinical study, transformed cells expressing MAP2K1 E102_I103del were less sensitive to Mekinist (trametinib) compared to to similar mutations in the negative regulatory domain of the Map2k1 protein in culture (PMID: 32641410). | 32641410 | |
MAP2K1 E102_I103del | histiocytosis | predicted - sensitive | Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, treatment with Mekinist (trametinib) resulted in complete remission in a pediatric patient with Langerhans cell histiocytosis harboring MAP2K1 E102_I103del, with treatment ongoing for at least 10 months (PMID: 36730444). | 36730444 | |
MAP2K1 E102_I103del | histiocytosis | predicted - sensitive | Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, Mekinist (trametinib) treatment resulted in complete remission of cutaneous lesions and resolution of the pituitary gland enlargement and associated symptoms in a patient with Langerhans cell histiocytosis harboring MAP2K1 E102_I103del (PMID: 35172489). | 35172489 | |
MAP2K1 E102_I103del | histiocytosis | predicted - sensitive | Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, Mekinist (trametinib) treatment resulted in symptom improvement, resolution of the partial pneumothorax, and reduction in cystic lesions in a patient with pulmonary Langerhans cell histiocytosis harboring MAP2K1 E102_I103del (PMID: 29694792). | 29694792 |